Lista Preturi Teste Genetice Gendia

MOLECULAR TESTS
Category Test Disease Pret

Molecular Tests AAAS (ALADIN, ADRACALIN) ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA 2110
» TRIPLE-A SYNDROME
» ALACRIMA-ACHALASIA-ADRENAL INSUFFICIENCY NEUROLOGIC DISORDER
» GLUCOCORTICOID DEFICIENCY AND ACHALASIA
» ALLGROVE SYNDROME
» ADDISONIAN-ACHALASIA SYNDROME
» HYPOADRENALISM WITH ACHALASIA
» ALACRIMA-ACHALASIA-ADDISONIANISM
» ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMA

Molecular Tests ABCA12 (ATP-BINDING CASSETTE, SUBFAMILY A, ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE 5590
MEMBER 12) » HARLEQUIN ICHTHYOSIS
Molecular Tests ABCA12 (ATP-BINDING CASSETTE, SUBFAMILY A, ICHTHYOSIS, LAMELLAR, 2, LI2 1160
MEMBER 12)
» LAMELLAR ICHTHYOSIS, TYPE 2
Molecular Tests ABCA3 (ATP-BINDING CASSETTE, SUBFAMILY A, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, TYPE 3 2750
MEMBER 3; ATP-BINDING CASSETTE TRANSPORTER 3) » PULMONARY ALVEOLAR PROTEINOSIS DUE TO ABCA3 DEFICIENCY
» INTERSTITIAL LUNG DISEASE DUE TO ABCA3 DEFICIENCY
Molecular Tests ABCA4 (ABCR) STARGARDT DISEASE, TYPE 1 1130
» MACULAR DEGENERATION, JUVENILE
» FUNDUS FLAVIMACULATUS
» MACULAR DYSTROPHY WITH FLECKS, TYPE 1
Molecular Tests ABCB11 (ATP-BINDING CASSETTE, SUBFAMILY B, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, PFIC1 2210
MEMBER 11) » BYLER DISEASE
Molecular Tests ABCB11 (ATP-BINDING CASSETTE, SUBFAMILY B, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, BRIC 2210
MEMBER 11) » SUMMERSKILL SYNDROME
Molecular Tests ABCB4 (ATP-BINDING CASSETTE, SUBFAMILY B, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, PFIC3 2400
MEMBER 4; MULTIDRUG RESISTANCE 3; MDR3; P- » MDR3 DEFICIENCY
GLYCOPROTEIN 3; PGY3) » CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, WITH ELEVATED SERUM
GAMMA-GLUTAMYLTRANSFERASE
Molecular Tests ABCB7 (ATP-BINDING CASSETTE, SUBFAMILY B, ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 1160
MEMBER 7, ABC TRANSPORTER 7)
Molecular Tests ABCC2 (ATP-BINDING CASSETTE, SUBFAMILY C, DUBIN-JOHNSON SYNDROME 2510
MEMBER 2; MULTISPECIFIC ORGANIC ANION » HYPERBILIRUBINEMIA, DUBIN-JOHNSON TYPE
TRANSPORTER, CANALICULAR; CMOAT; MULTIDRUG » HYPERBILIRUBINEMIA, TYPE 2
RESISTANCE-ASSOCIATED PROTEIN 2; MRP2)
Molecular Tests ABCC6 (MULTIDRUG RESISTANCE-ASSOCIATED PSEUDOXANTHOMA ELASTICUM (AUTOSOMAL DOMINANT), PXE 1290
PROTEIN 6, MRP6)
PROTEIN 6, MRP6)
PROTEIN 6, MRP6)
Molecular Tests ABCC6 (MULTIDRUG RESISTANCE-ASSOCIATED PSEUDOXANTHOMA ELASTICUM (AUTOSOMAL RECESSIVE), PXE 1290
PROTEIN 6, MRP6)
PROTEIN 6, MRP6)
PROTEIN 6, MRP6)
www.gendia.eu 1/227
Molecular Tests ABCC8 (ATP-BINDING CASSETTE, SUBFAMILY C, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 1 1510
MEMBER 8, SUR1) » PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
» HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY
» HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS
HYPERPLASIA
» NESIDIOBLASTOSIS OF PANCREAS
» HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS
» HYPERINSULINISM, CONGENITAL ONEMIA SYNDROME
Molecular Tests ABCC8 (ATP-BINDING CASSETTE, SUBFAMILY C, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 1 610
MEMBER 8, SUR1) » PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
HYPERPLASIA
Molecular Tests ABCC8 (ATP-BINDING CASSETTE, SUBFAMILY C, DIABETES MELLITUS, PERMANENT NEONATAL 1610
MEMBER 8, SUR1)
Molecular Tests ABCC8 (ATP-BINDING CASSETTE, SUBFAMILY C, DIABETES MELLITUS, PERMANENT NEONATAL 610
MEMBER 8, SUR1)
Molecular Tests ABCC9 (ATP-BINDING CASSETTE, SUBFAMILY C, CARDIOMYOPATHY, DILATED, TYPE 1O 2270
MEMBER 9; SULFONYLUREA RECEPTOR 2; SUR2)
Molecular Tests ABCD1 ADRENOLEUKODYSTROPHY, ALD 1300
Molecular Tests ACAD8 (ACYL-CoA DEHYDROGENASE FAMILY, » ADRENOMYELONEUROPATHY,

ISOBUTYRYL GLYCINURIA AMN 1160
MEMBER 8)
» ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
Molecular Tests ACAD9 (ACYL-CoA DEHYDROGENASE FAMILY, ACAD9 DEFICIENCY 2850
MEMBER 9) » ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF
Molecular Tests ACADM MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY, MCAD 1210
Molecular Tests ACADM MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY, MCAD 510
Molecular Tests ACADS (ACYL-CoA DEHYDROGENASE, SHORT-CHAIN) SCAD DEFICIENCY 920
Molecular Tests ACADSB (ACYL-CoA DEHYDROGENASE, » SHORT-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY

2-ALPHA-METHYLBUTYRYLGLYCINURIA 1210
SHORT/BRANCHED CHAIN)
Molecular Tests ACADVL (ACYL-CoA DEHYDROGENASE, VERY LONG- » 2-ALPHA-METHYLBUTYRYL-CoA
ACYL-CoA DEHYDROGENASE
DEHYDROGENASE, VERY DEFICIENCY,
LONG-CHAIN, DEFICIENCY OF, MBD
VLCAD 1100
CHAIN, VLCAD) DEFICIENCY
Molecular Tests ACAT1 (ACETYL-CoA ACETYLTRANSFERASE 1; ALPHA-METHYLACETOACETIC ACIDURIA 1930
ACETOACETYL-CoA THIOLASE, MITOCHONDRIAL) » BETA-KETOTHIOLASE DEFICIENCY
» MITOCHONDRIAL ACETOACETYL-CoA THIOLASE DEFICIENCY
» 2-@METHYL-3-HYDROXYBUTYRIC ACIDEMIA
Molecular Tests ACE (ANGIOTENSIN I-CONVERTING RENAL TUBULAR DYSGENESIS 2110

ENZYME;DIPEPTIDYL CARBOXYPEPTIDASE 1, » RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA
KININASE 2)
Molecular Tests ACOX1 (ACYL-CoA OXIDASE 1, PALMITOYL; ACYL-CoA PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY 1310
OXIDASE, PALMITOYL, PEROXISOMAL; PALMITOYL- » STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY
CoA OXIDASE; ACYL-CoA OXIDASE, STRAIGHT-CHAIN; » PSEUDONEONATAL ADRENOLEUKODYSTROPHY
SCOX)
Molecular Tests ACTA1 (ACTIN) ACTIN MYOPATHY 810
Molecular Tests ACTA1 (ACTIN) NEMALINE MYOPATHY 3, NEM3 810
Molecular Tests ACTA1 (ACTIN) MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, CFTD 810
Molecular Tests ACTA1 (ACTIN) NEMALINE MYOPATHY 2, NEM2 810
Molecular Tests ACTA2 (ACTIN, ALPHA-2, SMOOTH MUSCLE, AORTA) AORTIC ANEURYSM, FAMILIAL THORACIC, TYPE 6 860
www.gendia.eu 2/227
Molecular Tests ACTC1 (ACTIN, ALPHA, CARDIAC MUSCLE, SMOOTH DILATED CARDIOMYOPATHY 860
MUSCLE ACTIN)
Molecular Tests ACTC1 (ACTIN, ALPHA, CARDIAC MUSCLE, SMOOTH HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 1, CMH1 860
MUSCLE ACTIN)
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY

Molecular Tests ACTC1, MYL2, MYL3 HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL 1660
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC
Molecular Tests ACTN2 (ACTININ, ALPHA-2) CARDIOMYOPATHY, DILATED, TYPE 1AA 1990
Molecular Tests ACTN4 (ACTININ, ALPHA-4) FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 1 1410
Molecular Tests ACVR1 (ACTIVIN A RECEPTOR, TYPE 1; ACTIVIN FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, FOP 820
RECEPTOR-LIKE KINASE 2; ALK2)
Molecular Tests ADA (ADENOSINE DEAMINASE, ADENOSINE SEVERE COMBINED IMMUNODEFICIENCY, (AUTOSOMAL RECESSIVE), T CELL- 1810
AMINOHYDROLASE) NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE
DEAMINASE DEFICIENCY, SCID
Molecular Tests ADAM9 (A DISINTEGRIN AND METALLOPROTEINASE CONE-ROD DYSTROPHY, TYPE 9, CORD9 1130
DOMAIN 9; MYELOMA CELL METALLOPROTEINASE;
MCMP; METALLOPROTEINASE-LIKE, DISINTEGRIN-
LIKE, AND CYSTEINE-RICH PROTEIN 9; MDC9)
Molecular Tests ADAMTS10 (A DISINTEGRIN-LIKE AND WEILL-MARCHESANI SYNDROME (AUTOSOMAL RECESSIVE) 2280
METALLOPROTEINASE WITH THROMBOSPONDIN TYPE » SPHEROPHAKIA-BRACHYMORPHIA SYNDROME
1 MOTIF, 10) » MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL
Molecular Tests ADAMTS13 (VON WILLEBRAND FACTOR-CLEAVING HEMOLYTIC-UREMIC SYNDROME 1610
PROTEASE)
Molecular Tests ADAMTS13 (VON WILLEBRAND FACTOR-CLEAVING » COMBINED DEFICIENCY
THROMBOTIC OF FACTORPURPURA,
THROMBOCYTOPENIC H AND FACTOR H-LIKE 1TTP
CONGENITAL, 1610
PROTEASE)
Molecular Tests ADAMTS18 (A DISINTEGRIN-LIKE AND WEILL-MARCHESANI SYNDROME (AUTOSOMAL RECESSIVE) 2280
METALLOPROTEINASE WITH THROMBOSPONDIN TYPE » SPHEROPHAKIA-BRACHYMORPHIA SYNDROME
1 MOTIF, 10) » MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL
Molecular Tests ADAMTS2 (A DISINTEGRIN-LIKE AND EHLERS-DANLOS SYNDROME, TYPE 7 (AUTOSOMAL RECESSIVE), TYPE 7, EDS7C 910
METALLOPROTEINASE WITH THROMBOSPONDIN TYPE » EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
1 MOTIF, 2)
Molecular Tests ADAMTSL4 (ADAMTS-LIKE 4; THROMBOSPONDIN ECTOPIA LENTIS, ISOLATED (AUTOSOMAL RECESSIVE) 1030
REPEAT-CONTAINING 1; TSRC1)
Molecular Tests ADCK3 (AARF DOMAIN-CONTAINING KINASE 3; COENZYME Q10 DEFICIENCY, PRIMARY, TYPE 4 1790
CABC1) » SPINOCEREBELLAR ATAXIA (AUTOSOMAL RECESSIVE), TYPE 9, SCAR9
Molecular Tests ADSL (ADENYLOSUCCINATE LYASE) ADENYLOSUCCINASE DEFICIENCY 1460
Molecular Tests AGL (AMYLO-1,6-GLUCOSIDASE, 4-ALPHA- » SUCCINYLPURINEMIC

GLYCOGEN AUTISMTYPE 3
STORAGE DISEASE, 2040
GLUCANOTRANSFER, GLYCOGEN DEBRANCHER » GSD TYPE 3
ENZYME) » FORBES DISEASE
» CORI DISEASE
» AMYLO-1,6-GLUCOSIDASE DEFICIENCY
» GLYCOGEN DEBRANCHER DEFICIENCY
Molecular Tests AGPAT2 (1-@ACYLGLYCEROL-3-PHOSPHATE O- LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 860

ACYLTRANSFERASE 2) » BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 1
» BRUNZELL SYNDROME, AGPAT2-RELATED
Molecular Tests AGPS (ALKYLGLYCERONE-PHOSPHATE SYNTHASE; RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, RCDP3 1055
ALKYLDIHYDROXYACETONEPHOSPHATE SYNTHASE; » ALKYLDIHYDROXYACETONEPHOSPHATE SYNTHASE DEFICIENCY
ADHAPS; ALKYL-DHAP SYNTHASE)
Molecular Tests AGT (ANGIOTENSINOGEN, SERPINA8, ANGIOTENSIN) RENAL TUBULAR DYSGENESIS 1010
» RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA
Molecular Tests AGTR1 (ANGIOTENSIN RECEPTOR 1) RENAL TUBULAR DYSGENESIS 660
www.gendia.eu 3/227
Molecular Tests AGXT (ALANINE-GLYOXYLATE AMINOTRANSFERASE, HYPEROXALURIA, PRIMARY, TYPE 1 1010
AGT, SERINE-PYRUVATE AMINOTRANSFERASE, SPT)
» OXALOSIS 1
» GLYCOLIC ACIDURIA
» ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY

» OXALOSIS 1

» OXALOSIS 1

Molecular Tests AHI1 (ABELSON HELPER INTEGRATION SITE 1, JOUBERT SYNDROME, TYPE 3 2910
JOUBERIN)
Molecular Tests AHI1 (ABELSON HELPER INTEGRATION SITE 1, JOUBERT SYNDROME, TYPE 3 890
JOUBERIN)
Molecular Tests AICARDI-GOUTIERES PANEL AICARDI-GOUTIERES, TYPE 1-5 2140
Molecular Tests AICDA (ACTIVATION-INDUCED CYTIDINE DEAMINASE, IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 1610
AID) » HYPER-IgM SYNDROME 2
Molecular Tests AIP (ARYL HYDROCARBON RECEPTOR-INTERACTING PITUITARY ADENOMA, GROWTH HORMONE-SECRETING 970
PROTEIN; HEPATITIS B VIRUS X-ASSOCIATED PROTEIN » SOMATOTROPINOMA, FAMILIAL ISOLATED
2; XAP2) » ACROMEGALY DUE TO PITUITARY ADENOMA
Molecular Tests AIP (ARYL HYDROCARBON RECEPTOR-INTERACTING PITUITARY ADENOMA, ACTH-SECRETING 970
PROTEIN; HEPATITIS B VIRUS X-ASSOCIATED PROTEIN » CUSHING DISEASE, PITUITARY
2; XAP2)
Molecular Tests AIP (ARYL HYDROCARBON RECEPTOR-INTERACTING PITUITARY ADENOMA, PROLACTIN-SECRETING 970
PROTEIN; HEPATITIS B VIRUS X-ASSOCIATED PROTEIN » PROLACTINOMA, FAMILIAL
2; XAP2)
Molecular Tests AIPL1 (ARYLHYDROCARBON-INTERACTING RECEPTOR LEBER CONGENITAL AMAUROSIS, TYPE 4, LCA4 840
PROTEIN-LIKE 1) » RETINITIS PIGMENTOSA, JUVENILE, AIPL1-RELATED
» CONE-ROD DYSTROPHY, AIPL1-RELATED
Molecular Tests AIRE (AUTOIMMUNE REGULATOR) AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE 1 1930
» AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY,

APECED
» AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE 1
» HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL

MONILIASIS
Molecular Tests ALAD (DELTA-AMINOLEVULINATE DEHYDRATASE; PORPHYRIA, ACUTE HEPATIC 910
ALADH; PORPHOBILINOGEN SYNTHASE; PBGS) » DELTA-AMINOLEVULINATE DEHYDRATASE DEFICIENCY
» PORPHOBILINOGEN SYNTHASE DEFICIENCY
» LEAD POISONING, SUSCEPTIBILITY TO
Molecular Tests ALAS2 (DELTA-AMINOLEVULINATE SYNTHASE 2; ANEMIA, SIDEROBLASTIC (X-LINKED) 580

ALASE) ANEMIA, HYPOCHROMIC
HEREDITARY IRON-LOADING ANEMIA
Molecular Tests ALAS2 (DELTA-AMINOLEVULINATE SYNTHASE 2; PROTOPORPHYRIA, ERYTHROPOIETIC (X-LINKED DOMINANT) 630
ALASE)
Molecular Tests ALBINISM PANEL: TYR (OCA1), P (OCA2), TYRP1 ALBINISM 2270
(OCA3), MATP (OCA4), GPR143 (OA1)
Molecular Tests ALDH18A1 (ALDEHYDE DEHYDROGENASE 18 FAMILY, CUTIS LAXA, TYPE 3A (AUTOSOMAL RECESSIVE) 910
MEMBER A1; 1-PYRROLINE-5-CARBOXYLATE
SYNTHETASE; GLUTAMATE GAMMA-SEMIALDEHYDE
SYNTHETASE)
www.gendia.eu 4/227
Molecular Tests ALDH18A1 (ALDEHYDE DEHYDROGENASE 18 FAMILY, SPASTIC PARAPLEGIA 9A (AUTOSOMAL DOMINANT), SPG9A 910
SYNTHETASE)
Molecular Tests ALDH18A1 (ALDEHYDE DEHYDROGENASE 18 FAMILY, SPASTIC PARAPLEGIA 9B (AUTOSOMAL RECESSIVE), SPG9B 910
SYNTHETASE)
Molecular Tests ALDH18A1 (ALDEHYDE DEHYDROGENASE 18 FAMILY, CUTIS LAXA, TYPE 3 (AUTOSOMAL DOMINANT) 910
SYNTHETASE)
Molecular Tests ALDH3A2 (FALDH, ALDH10) SJOGREN-LARSSON SYNDROME 1870
Molecular Tests ALDH7A1 (ATQ1; ALDEHYDE DEHYDROGENASE 7 » FATTY ALDEHYDE

EPILEPSY, DEHYDROGENASE
PYRIDOXINE-DEPENDENT, DEFICIENCY
EPD 1120
FAMILY, MEMBER A1; ANTIQUITIN; ALPHA AMINO- » AASA DEHYDROGENASE DEFICIENCY
ADIPIC SEMIALDEHYDE DEHYDROGENASE)
Molecular Tests ALDOB (ALDOLASE B) FRUCTOSE INTOLERANCE 960
» FRUCTOSEMIA
» FRUCTOSE-1-PHOSPHATE
Molecular Tests ALDOB (ALDOLASE B) FRUCTOSE INTOLERANCE 510
» FRUCTOSEMIA
» FRUCTOSE-1-PHOSPHATE
Molecular Tests ALG12 (ALG12, S. CEREVISIAE, HOMOLOG OF; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1G, CDG1G 1200
ASPARAGINE-LINKED GLYCOSYLATION 12, HOMOLOG
OF; DOLICHYL-P-MANNOSE:MAN-7-GlcNAc-2-PP-
DOLICHYL-ALPHA-6-MANNOSYLTRANSFERASE)
Molecular Tests ALG6 (ALG6, S. CEREVISIAE, HOMOLOG OF) CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1C, CDG1C 1630
» CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE I, WITH
DEFICIENT GLYCOSYLATION OF DOLICHOL-LINKED OLIGOSACCHARIDE,
FORMERLY
» CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE 5, FORMERLY
Molecular Tests ALG8 (ALG8, S. CEREVISIAE, HOMOLOG OF) CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1H, CDG1H 1550
Molecular Tests ALG9 (ALG9, S. CEREVISIAE, HOMOLOG OF) CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1L, CDG1L 1630
Molecular Tests ALK1 (ACTIVIN A RECEPTOR, TYPE II-LIKE 1, ACVRL1) TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER, 1270
TYPE 2
» OSLER-RENDU-WEBER DISEASE
» ORW DISEASE
Molecular Tests ALMS1 ALSTROM SYNDROME, ALMS 1410
Molecular Tests ALOX12B (ARACHIDONATE 12-LIPOXYGENASE, R ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL 2070
TYPE, 12R-@LIPOXYGENASE)
Molecular Tests ALOXE3 (ARACHIDONATE LIPOXYGENASE ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL 2050
3, LIPOXYGENASE TYPE 3)
Molecular Tests ALPL (ALKALINE PHOSPHATASE, LIVER; ALKALINE HYPOPHOSPHATASIA, ADULT 910
PHOSPHATASE, LIVER/BONE/KIDNEY TYPE) » ODONTOHYPOPHOSPHATASIA
Molecular Tests ALPL (ALKALINE PHOSPHATASE, LIVER; ALKALINE HYPOPHOSPHATASIA, INFANTILE 910
PHOSPHATASE, LIVER/BONE/KIDNEY TYPE) » HYPOPHOSPHATASIA, PERINATAL LETHAL
Molecular Tests ALX4 (ARISTALESS-LIKE 4, MOUSE, HOMOLOG OF) PARIETAL FORAMINA, TYPE 2 1210
» FORAMINA PARIETALIA PERMAGNA
» CATLIN MARKS
Molecular Tests AMACR (ALPHA-METHYLACYL-CoA RACEMASE) BILE ACID SYNTHESIS DEFECT, CONGENITAL, TYPE 4 910
» CHOLESTASIS, INTRAHEPATIC, WITH DEFECTIVE CONVERSION OF
TRIHYDROXYCOPROSTANIC ACID TO CHOLIC ACID
www.gendia.eu 5/227
Molecular Tests AMACR (ALPHA-METHYLACYL-CoA RACEMASE) ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY 910
Molecular Tests AMPD1 (AMP DEAMINASE) MYOADENYLATE DEAMINASE DEFICIENCY 2080
Molecular Tests AMPD1 (AMP DEAMINASE) MYOADENYLATE DEAMINASE DEFICIENCY 560
Molecular Tests AMT (AMINOMETHYLTRANSFERASE, GLYCINE NONKETOTIC HYPERGLYCINEMIA 1160

CLEAVAGE SYSTEM T PROTEIN) » GLYCINE ENCEPHALOPATHY
Molecular Tests ANG (ANGIOGENIN, RNASE5) AMYOTROPHIC LATERAL SCLEROSIS, TYPE 1, ALS1 760
Molecular Tests AP1S2 (ADAPTOR-RELATED PROTEIN COMPLEX 1, MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 59, MRX59 920
SIGMA-2 SUBUNIT; CLATHRIN-
ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, SMALL 1-
LIKE)
Molecular Tests AP3B1 (ADAPTOR-RELATED PROTEIN COMPLEX 3, HERMANSKY-PUDLAK SYNDROME, TYPE 2, HPS2 1180
BETA-1 SUBUNIT; ADAPTIN, BETA-3A; ADTB3A; HPS2)
Molecular Tests APC POLYPOSIS COLI, ADENOMATOUS 1100
» FAMILIAL ADENOMATOUS POLYPOSIS, FAP

Molecular Tests APC POLYPOSIS COLI, ADENOMATOUS 990
» FAMILIAL ADENOMATOUS POLYPOSIS, FAP

Molecular Tests APOA1 (APOLIPOPROTEIN A-1) HYPO-ALPHALIPOPROTEINEMIA 560
Molecular Tests APOB (APOLIPOPROTEIN B, APOB100, APOB48) HYPOBETALIPOPROTEINEMIA, FAMILIAL 4260
» ABETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC, STEINBERG TYPE
Molecular Tests APOB (APOLIPOPROTEIN B, APOB100, APOB48) HYPERCHOLESTEROLEMIA 510
Molecular Tests APOB (APOLIPOPROTEIN B, APOB100, APOB48) HYPERCHOLESTEROLEMIA (AUTOSOMAL DOMINANT), TYPE B 560
Molecular Tests APOC2 (APOLIPOPROTEIN C2) HYPERCHYLOMICRONEMIA 610
Molecular Tests APOE (APOLIPOPROTEIN E) » APOLIPOPROTEIN C2 DEFICIENCY

DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E 560
» APOLIPOPROTEIN E DEFICIENCY
» HYPERLIPOPROTEINEMIA, TYPE 3
Molecular Tests APP ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 1, AD1 1010
Molecular Tests APP CEREBRAL AMYLOID ANGIOPATHY 1010
» AMYLOIDOSIS, CEREBROARTERIAL
» AMYLOIDOSIS, TYPE 6
www.gendia.eu 6/227
Molecular Tests APTX (APRATAXIN) ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA 960
» ATAXIA-OCULOMOTOR APRAXIA SYNDROME
» ATAXIA-OCULOMOTOR APRAXIA 1
» ATAXIA-TELANGIECTASIA-LIKE SYNDROME
» CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA
» ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA
Molecular Tests AQP2 (AQUAPORIN 2) DIABETES INSIPIDUS, NEPHROGENIC (AUTOSOMAL DOMINANT) 580
Molecular Tests AQP2 (AQUAPORIN 2) DIABETES INSIPIDUS, NEPHROGENIC (AUTOSOMAL RECESSIVE) 580
Molecular Tests AR (ANDROGEN RECEPTOR) HYPOSPADIAS (X-LINKED) 1005
Molecular Tests AR (ANDROGEN RECEPTOR) ANDROGEN INSENSITIVITY SYNDROME, AIS 1005
Molecular Tests AR (ANDROGEN RECEPTOR) REIFENSTEIN SYNDROME 1005
Molecular Tests AR (ANDROGEN RECEPTOR) KENNEDY DISEASE 760
Molecular Tests ARG1 (ARGINASE, LIVER) » SPINAL AND BULBAR MUSCULAR ATROPHY, SBMA
ARGININEMIA 1250
» ARGINASE DEFICIENCY
» HYPERARGININEMIA
Molecular Tests ARH HYPERCHOLESTEROLEMIA (AUTOSOMAL RECESSIVE), ARH 1010
Molecular Tests ARHGAP31 (RHO GTPase-ACTIVATING PROTEIN ADAMS-OLIVER SYNDROME, TYPE 1 860
31;CDC42 GTPase-ACTIVATING PROTEIN) » APLASIA CUTIS CONGENITA WITH TERMINAL TRANSVERSE LIMB DEFECTS
Molecular Tests ARHGEF9 (RHO GUANINE NUCLEOTIDE EXCHANGE HYPEREKPLEXIA AND EPILEPSY 960
FACTOR 9; COLLYBISTIN)
Molecular Tests ARIX (ARISTALESS HOMEOBOX, DROSOPHILA, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE2, FEOM2, CFEOM2 510
HOMOLOG , PHOX2A)
Molecular Tests ARL13B (ADP-RIBOSYLATION FACTOR-LIKE 13B, ARL2- JOUBERT SYNDROME, TYPE 8 1610
LIKE PROTEIN 1)
Molecular Tests ARL6 (ADP-RIBOSYLATION FACTOR-LIKE 6; BBS3 BARDET-BIEDL SYNDROME, BBS 910
GENE)
Molecular Tests ARL6 (ADP-RIBOSYLATION FACTOR-LIKE 6; BBS3 RETINITIS PIGMENTOSA, TYPE 55, RP55 910
GENE)
Molecular Tests ARSA (ARYLSULFATASE A, CEREBROSIDE-SULFATASE) METACHROMATIC LEUKODYSTROPHY 1160
» SULFATIDE LIPIDOSIS
Molecular Tests ARSA (ARYLSULFATASE A, CEREBROSIDE-SULFATASE) PSEUDOARYLSULFATASE A DEFICIENCY 1160
Molecular Tests ARSA (ARYLSULFATASE A, CEREBROSIDE-SULFATASE) METACHROMATIC LEUKODYSTROPHY 910
» SULFATIDE LIPIDOSIS
Molecular Tests ARSA (ARYLSULFATASE A, CEREBROSIDE-SULFATASE) PSEUDOARYLSULFATASE A DEFICIENCY 910
Molecular Tests ARSB (ARYLSULFATASE B, N- MUCOPOLYSACCHARIDOSIS TYPE 6, MPS6 1160

ACETYLGALACTOSAMINE-4-SULFATASE)
» MAROTEAUX-LAMY SYNDROME
» ARYLSULFATASE B DEFICIENCY
Molecular Tests ARSE (ARYLSULFATASE E) CHONDRODYSPLASIA PUNCTATA (X-LINKED RECESSIVE) 1055
» CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC
Molecular Tests ARX LISSENCEPHALY WITH AMBIGUOUS GENITALIA (X-LINKED) 760
Molecular Tests ARX MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE54, MRX54 760
Molecular Tests ARX MYOCLONIC EPILEPSY WITH MENTAL RETARDATION AND SPASTICITY (X-LINKED) 760
Molecular Tests ARX INFANTILE SPASMS (X-LINKED), ISS X 760
» WEST SYNDROME
www.gendia.eu 7/227
Molecular Tests ARX PARTINGTON SYNDROME, MRXS1 760
Molecular Tests ASCC3L1 (SMALL NUCLEAR RIBONUCLEOPROTEIN, » MENTAL PIGMENTOSA,

RETINITIS RETARDATION, PARTINGTON
TYPE 33, RP33 SYNDROME, MRXS1 1370
200-KD; SNRNP200; ACTIVATING SIGNAL
COINTEGRATOR I COMPLEX SUBUNIT 3-LIKE 1;
ASCC3L1; U5 snRNP-SPECIFIC PROTEIN, 200-KD)
Molecular Tests ASL (ARGININOSUCCINATE LYASE, ARGININOSUCCINIC ACIDURIA 1700

ARGININOSUCCINASE) » ARGININOSUCCINASE DEFICIENCY
» ARGININOSUCCINATE LYASE DEFICIENCY
» ASL DEFICIENCY
Molecular Tests ASPA (ASPARTOACYLASE) CANAVAN DISEASE 810
» CANAVAN-VAN BOGAERT-BERTRAND DISEASE

» ASPARTOACYLASE DEFICIENCY
» SPONGY DEGENERATION OF CENTRAL NERVOUS SYSTEM
Molecular Tests ASPM (ABNORMAL SPINDLE-LIKE, MICROCEPHALY- MICROCEPHALY, PRIMARY, TYPE 5 (AUTOSOMAL RECESSIVE), MCPH5 2620
ASSOCIATED; MCPH5)
Molecular Tests ASS (ARGININOSUCCINATE SYNTHETASE) CITRULLINEMIA, CLASSIC 1210
» CITRULLINEMIA, TYPE 1
» CITRULLINURIA
» ARGININOSUCCINATE SYNTHETASE DEFICIENCY
Molecular Tests AT3 (SERPINC1) ANTITHROMBIN 3 DEFICIENCY 770
Molecular Tests ATM » THROMBOPHILIA, HEREDITARY,

ATAXIA-TELANGIECTASIA, AT DUE TO DEFICIENCY OF AT3 1930
Molecular Tests ATP1A2 » LOUIS-BAR

FAMILIAL SYNDROME
PARAPLEGIC MIGRAINE TYPE 2 610
Molecular Tests ATP1A2 FAMILIAL PARAPLEGIC MIGRAINE TYPE 2 1410
Molecular Tests ATP1A3 (ATPase, Na+/K+ TRANSPORTING, ALPHA-3 DYSTONIA, TYPE 12, DYT12 2010
POLYPEPTIDE; SODIUM-POTASSIUM-ATPase)
Molecular Tests ATP1A3 (ATPase, Na+/K+ TRANSPORTING, ALPHA-3 DYSTONIA, TYPE 12, DYT12 910
POLYPEPTIDE; SODIUM-POTASSIUM-ATPase)
Molecular Tests ATP2A2 (ATP2B, SERCA2) ACROKERATOSIS VERRUCIFORMIS 2610
Molecular Tests ATP2A2 (ATP2B, SERCA2) » HOPF DISEASEDISEASE

DARIER-WHITE 2610
» KERATOSIS FOLLICULARIS
Molecular Tests ATP2C1 HAILEY-HAILEY DISEASE 3140
Molecular Tests ATP5E (ATP SYNTHASE, H+ TRANSPORTING, » PEMPHIGUS, BENIGN

MITOCHONDRIAL FAMILIAL
COMPLEX 5 (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 800
MITOCHONDRIAL F1 COMPLEX, EPSILON SUBUNIT)
Molecular Tests ATP6V0A2 (ATPase, H+ TRANSPORTING, LYSOSOMAL, CUTIS LAXA, TYPE 2A (AUTOSOMAL RECESSIVE) 910
V0 SUBUNIT A2) » CUTIS LAXA, DEBRE TYPE
Molecular Tests ATP6V0A2 (ATPase, H+ TRANSPORTING, LYSOSOMAL, WRINKLY SKIN SYNDROME 910
V0 SUBUNIT A2)
Molecular Tests ATP6V0A4 (ATP6N2 VACUOLAR PROTEIN PUMP, RENAL TUBULAR ACIDOSIS, DISTAL (AUTOSOMAL RECESSIVE) 1450
SUBUNIT 2, VPP
» RENAL TUBULAR ACIDOSIS (AUTOSOMAL RECESSIVE) WITH PRESERVED HEARING
» RENAL TUBULAR ACIDOSIS, DISTAL, (AUTOSOMAL RECESSIVE) WITH LATE-ONSET

Molecular Tests ATP6V1B1 (ATP6B1 RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS 1110
VACUOLAR PROTON PUMP, SUBUNIT 3, VPP3)
Molecular Tests ATP7A NEONATAL CUTIS LAXA 910
Molecular Tests ATP7A » OCCIPITALCUTIS

NEONATAL HORNLAXA
SYNDROME 890
Molecular Tests ATP7A » OCCIPITAL

MENKES HORN SYNDROME
DISEASE 910
» KINKY HAIR DISEASE
www.gendia.eu 8/227
Molecular Tests ATP7A MENKES DISEASE 890
Molecular Tests ATP7B » KINKY DISEASE

WILSON HAIR DISEASE 1510
Molecular Tests ATP7B » HEPATOLENTICULAR

WILSON DISEASE DEGENERATION 560
Molecular Tests ATP8B1 (FIC1) » HEPATOLENTICULAR

CHOLESTASIS, DEGENERATION
PROGRESSIVE FAMILIAL INTRAHEPATIC 1, PFIC1 2210
Molecular Tests ATP8B1 (FIC1) » BYLER DISEASE

CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, BRIC 2210
Molecular Tests ATPAF2 (ATP SYNTHASE, MITOCHONDRIAL F1 » SUMMERSKILL SYNDROME

MITOCHONDRIAL COMPLEX 5 (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 1280
COMPLEX, ASSEMBLY FACTOR 2; ATP12, S.
CEREVISIAE, HOMOLOG OF; ATP12)
Molecular Tests ATRX (XNP) ALPHA-THALASSEMIA / MENTAL RETARDATION SYNDROME, ATRX (X-LINKED) 1850
» ATR-X SYNDROME
Molecular Tests ATRX (XNP) SMITH-FINEMAN-MYERS MENTAL RETARDATION SYNDROME 1850
Molecular Tests ATRX (XNP) JUBERG-MARSIDI SYNDROME 1850
» MENTAL RETARDATION, WITH GROWTH RETARDATION, DEAFNESS, AND

MICROGENITALISM (X-LINKED)
Molecular Tests ATXN10 (ATAXIN 10) SPINOCEREBELLAR ATAXIA 10, SCA10 510
Molecular Tests ATXN8OS (ATAXIN 8 OPPOSITE STRAND, SCA8) SPINOCEREBELLAR ATAXIA 8, SCA8 510
Molecular Tests AUH (AU-SPECIFIC RNA-BINDING PROTEIN, 3-ALPHA- 3-ALPHA-METHYLGLUTACONICACIDURIA, TYPE 1 1100
METHYLGLUTACONYL -CoA HYDRATASE)
Molecular Tests AVP (ARGININE VASOPRESSIN, VASOPRESSIN- » 3-ALPHA-METHYLGLUTACONYL-CoA
DIABETES HYDRATASE DEFICIENCY
INSIPIDUS, NEUROHYPOPHYSEAL 510
NEUROPHYSIN 2, ANTIDIURETIC HORMONE, ADH) » DIABETES INSIPIDUS, PRIMARY CENTRAL
Molecular Tests AVPR2 (VASOPRESSIN RECEPTOR 2, ANTIDIURETIC DIABETES INSIPIDUS, NEPHROGENIC (X-LINKED) 660
HORMONE RECEPTOR)
Molecular Tests AVPR2 (VASOPRESSIN RECEPTOR 2, ANTIDIURETIC DIABETES INSIPIDUS, NEPHROGENIC (X-LINKED) 990
HORMONE RECEPTOR)
Molecular Tests AZFa, AZFb and AZFc (including DAZ) AZOSPERMIA-OLIGOSPERMIA 510
» SERTOLI-CELL-ONLY SYNDROME
Molecular Tests B3GALTL (UDP-GAL:BETA-GlcNAc BETA-1,3- PETERS-PLUS SYNDROME 1510
GALACTOSYLTRANSFERASE-LIKE, BETA-1,3- » KRAUSE-KIVLIN SYNDROME
GLUCOSYLTRANSFERASE) » PETERS ANOMALY WITH SHORT-LIMB DWARFISM
Molecular Tests B4GALT1 (UDP-GAL:BETA-GlcNAc BETA-1,4- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2D, CDG2D 1200
GALACTOSYLTRANSFERASE, POLYPEPTIDE 1; BETA-
1,4-GALACTOSYLTRANSFERASE 1)
Molecular Tests BANF1 (BARRIER-TO-AUTOINTEGRATION FACTOR 1) NESTOR-GUILLERMO PROGERIA SYNDROME 510
» PROGERIA SYNDROME, CHILDHOOD-ONSET, WITH OSTEOLYSIS
Molecular Tests BBS1 BARDET-BIEDL SYNDROME TYPE 1, BBS1 1410
Molecular Tests BBS6 (MKKS, MKS) BARDET-BIEDL SYNDROME TYPE 6, BBS6 1010
Molecular Tests BBS6 (MKKS, MKS) MCKUSICK-KAUFMAN SYNDROME 1010

» HYDROMETROCOLPOS SYNDROME
» HYDROMETROCOLPOS, POSTAXIAL POLYDACTYLY, AND CONGENITAL HEART
MALFORMATION
www.gendia.eu 9/227
Molecular Tests BCKDHA (BRANCHED-CHAIN KETO ACID MAPLE SYRUP URINE DISEASE 1270
DEHYDROGENASE E1, ALPHA POLYPEPTIDE) » BRANCHED-CHAIN KETOACIDURIA
» BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY
» KETO ACID DECARBOXYLASE DEFICIENCY
» LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO
Molecular Tests BCKDHA, BCKDHB, DBT MAPLE SYRUP URINE DISEASE 2640
» BRANCHED-CHAIN KETOACIDURIA
Molecular Tests BCKDHB (BRANCHED-CHAIN KETO ACID MAPLE SYRUP URINE DISEASE 1370
DEHYDROGENASE E1, BETA POLYPEPTIDE) » BRANCHED-CHAIN KETOACIDURIA
Molecular Tests BCS1L (BCS1, S. CEREVISIAE, HOMOLOG-LIKE) CYTOCHROME c OXIDASE DEFICIENCY 1070
» COX DEFICIENCY
Molecular Tests BCS1L (BCS1, S. CEREVISIAE, HOMOLOG-LIKE) LEIGH SYNDROME 1070
Molecular Tests BCS1L (BCS1, S. CEREVISIAE, HOMOLOG-LIKE) GRACILE SYNDROME 1070
» GROWTH RETARDATION, AMINO ACIDURIA, CHOLESTASIS, IRON OVERLOAD,

LACTIC ACIDOSIS, AND EARLY DEATH
» FINNISH LETHAL NEONATAL METABOLIC SYNDROME
Molecular Tests BEST1 (VMD2; VITELLIFORM MACULAR DYSTROPHY » LACTIC ACIDOSIS,

MACULAR FINNISH,
DYSTROPHY, WITH HEPATIC
VITELLIFORM, VMD HEMOSIDEROSIS 890
GENE 2; BESTROPHIN)
Molecular Tests BEST1 (VMD2; VITELLIFORM MACULAR DYSTROPHY » BEST MACULAR
MACULAR DYSTROPHY
DYSTROPHY, CONCENTRIC ANNULAR 890
GENE 2; BESTROPHIN)
Molecular Tests BEST1 (VMD2; VITELLIFORM MACULAR DYSTROPHY » BULL'S EYE MACULAR
VITELLIFORM MACULARDYSTROPHY
DYSTROPHY, ADULT-ONSET 890
GENE 2; BESTROPHIN)
» FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH CHOROIDAL
NEOVASCULARIZATION
Molecular Tests BIN1 (BRIDGING INTEGRATOR 1; AMPHIPHYSIN 2; BOX- MYOPATHY, CENTRONUCLEAR, TYPE 2 2300
DEPENDENT MYC-INTERACTING PROTEIN 1; » MYOPATHY, CENTRONUCLEAR (AUTOSOMAL RECESSIVE)
AMPHIPHYSIN-LIKE, FORMERLY) » MYOTUBULAR MYOPATHY (AUTOSOMAL RECESSIVE)
Molecular Tests BIRC4 (BACULOVIRAL IAP REPEAT-CONTAINING LYMPHOPROLIFERATIVE SYNDROME, TYPE 2 (X-LINKED), XLP2 1740
PROTEIN 4; APOPTOSIS INHIBITOR 3; API3 INHIBITOR » XIAP DEFICIENCY
OF APOPTOSIS, X-LINKED; XIAP)
Molecular Tests BLOC1S3 (BIOGENESIS OF LYSOSOME-RELATED HERMANSKY-PUDLAK SYNDROME, TYPE 8, HPS8 750
ORGANELLES COMPLEX 1, SUBUNIT 3; BLOS3; HPS8;
REDUCED PIGMENTATION, MOUSE, HOMOLOG OF)
Molecular Tests BMPR1A (BONE MORPHOGENETIC PROTEIN RECEPTOR, COWDEN DISEASE 1030
TYPE 1A, ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE » LHERMITTE-DUCLOS DISEASE
3, ACVRLK3)
Molecular Tests BMPR1A (BONE MORPHOGENETIC PROTEIN RECEPTOR, JUVENILE POLYPOSIS SYNDROME 1030
TYPE 1A, ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE
3, ACVRLK3)
Molecular Tests BMPR1A (BONE MORPHOGENETIC PROTEIN RECEPTOR, POLYPOSIS SYNDROME, HEREDITARY MIXED, TYPE 2 1030
TYPE 1A, ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE
3, ACVRLK3)
Molecular Tests BMPR1B (BONE MORPHOGENETIC PROTEIN RECEPTOR, BRACHYDACTYLY TYPE A2, BDA2 760
TYPE IB, ACTIVIN RECEPTOR-LIKE KINASE 6)
» BRACHYMESOPHALANGY 2
Molecular Tests BMPR2 PRIMARY PULMONARY HYPERTENSION, PPH1 1335
Molecular Tests BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE LYMPHOMA, NON-HODGKIN 1020
HOMOLOG B1, RAFB1)
Molecular Tests BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE NONSMALL CELL LUNG CANCER, SOMATIC 1020
HOMOLOG B1, RAFB1)
www.gendia.eu 10/227
Molecular Tests BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE ADENOCARCINOMA OF LUNG, SOMATIC 1020
HOMOLOG B1, RAFB1)
Molecular Tests BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE THYROID CARCINOMA, PAPILLARY, SOMATIC 1020
HOMOLOG B1, RAFB1)
Molecular Tests BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE MELANOMA, MALIGNANT, SOMATIC 1020
HOMOLOG B1, RAFB1)
Molecular Tests BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE COLORECTAL CANCER, SOMATIC 1020
HOMOLOG B1, RAFB1)
Molecular Tests BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE CARDIOFACIOCUTANEOUS SYNDROME, CFC 1020
HOMOLOG B1, RAFB1)
Molecular Tests BRCA1 and BRCA2 BREAST AND OVARIAN CANCER 1210
Molecular Tests BRCA1 and BRCA2 BREAST AND OVARIAN CANCER 630
Molecular Tests BRCA1 and BRCA2 PROSTATE CANCER 1210
Molecular Tests BRCA1 and BRCA2 PROSTATE CANCER 630
Molecular Tests BSCL2 (SEIPIN) FAMILIAL SPASTIC PARAPLEGIA 17, SPG17 1050
» SPASTIC PARAPLEGIA WITH AMYOTROPHY OF HANDS AND FEET
» SILVER SYNDROME
» SILVER SPASTIC PARAPLEGIA SYNDROME
» SPINAL MUSCULAR ATROPHY, DISTAL, TYPE 5, DSMA5
Molecular Tests BSND (BARTTIN) BARTTER SYNDROME, TYPE 4 560

» BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS
Molecular Tests BTD (BIOTINIDASE) BIOTINIDASE DEFICIENCY 820
» MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET
» MULTIPLE CARBOXYLASE DEFICIENCY, JUVENILE-ONSET
» BTD DEFICIENCY
Molecular Tests BTD (BIOTINIDASE) BIOTINIDASE DEFICIENCY 580

» MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET
» MULTIPLE CARBOXYLASE DEFICIENCY, JUVENILE-ONSET
» BTD DEFICIENCY
Molecular Tests BTK (BRUTON TYROSINE KINASE, ATK, BPK) AGAMMAGLOBULINEMIA (X-LINKED), XLA 1060
» BRUTON AGAMMAGLOBULINEMIA
Molecular Tests C10ORF2 (CHROMOSOME 10 OPEN READING FRAME PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA 1190
2, T7 GENE 4-LIKE PROTEIN WITH DELETIONS, DIGENIC
INTRAMITOCHONDRIAL NUCLEOID LOCALIZATION,
TWINKLE)
Molecular Tests C10ORF2 (CHROMOSOME 10 OPEN READING FRAME SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, SANDO 1190
2, T7 GENE 4-LIKE PROTEIN WITH
TWINKLE) » SPINOCEREBELLAR ATAXIA WITH EPILEPSY
Molecular Tests C10ORF2 (CHROMOSOME 10 OPEN READING FRAME PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA 1190
2, T7 GENE 4-LIKE PROTEIN WITH DELETIONS (AUTOSOMAL DOMINANT), TYPE 3
TWINKLE)
Molecular Tests C1NH (C1 ESTERASE INHIBITOR, SERPING 1) ANGIOEDEMA 1900
» ANGIONEUROTIC EDEMA
Molecular Tests C20ORF7 (CHROMOSOME 20 OPEN READING FRAME 7; CYTOCHROME c OXIDASE DEFICIENCY 1590
C20ORF7 ; NDUFAF5) » COX DEFICIENCY
» COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
Molecular Tests C2ORF71 (CHROMOSOME 2 OPEN READING FRAME 71) RETINITIS PIGMENTOSA, TYPE 54, RP54 990
Molecular Tests C3 (COMPLEMENT COMPONENT 3) COMPLEMENT COMPONENT 3 DEFICIENCY (AUTOSOMAL RECESSIVE) 1610
» C3 DEFICIENCY (AUTOSOMAL RECESSIVE)
Molecular Tests C3 (COMPLEMENT COMPONENT 3) MACULAR DEGENERATION, AGE-RELATED, TYPE 9, SUSCEPTIBILITY TO 1610
Molecular Tests C3 (COMPLEMENT COMPONENT 3) HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, TYPE 5 1610
Molecular Tests C7ORF10 (CHROMOSOME 7 OPEN READING FRAME 10) GLUTARIC ACIDURIA, TYPE 3 1400
» GLUTARYL-CoA OXIDASE DEFICIENCY
Molecular Tests C9ORF72 (CHROMOSOME 9 OPEN READING FRAME 72) FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 710
» FRONTOTEMPORAL DEMENTIA AND/OR MOTOR NEURON DISEASE
Molecular Tests CA2 (CARBONIC ANHYDRASE 2) OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS 810
» GUIBAUD - VAINSEL SYNDROME
» CARBONIC ANHYDRASE 2 DEFICIENCY

Molecular Tests CA4 (CARBONIC ANHYDRASE 4) RETINITIS PIGMENTOSA, TYPE 17, RP17 840
Molecular Tests CABP4 (CALCIUM-BINDING PROTEIN 4) NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B, CSNB2B 840
» NIGHT BLINDNESS, CONGENITAL STATIONARY, INCOMPLETE (AUTOSOMAL
RECESSIVE)
Molecular Tests CACNA1A (CALCIUM CHANNEL, VOLTAGE- EPISODIC ATAXIA, TYPE 2, EA2 1610
DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT, CALCIUM » ATAXIA, EPISODIC, WITH NYSTAGMUS
CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4, » EPISODIC ATAXIA, NYSTAGMUS-ASSOCIATED
CACNL1A4) » CEREBELLOPATHY, HEREDITARY PAROXYSMAL
ATAXIA
» FAMILIAL PAROXYSMAL
ACETAZOLAMIDE-RESPONSIVE
» HEREDITARY PAROXYSMAL CEREBELLAR ATAXIA
» CEREBELLAR ATAXIA, PAROXYSMAL, ACETAZOLAMIDE-RESPONSIVE
Molecular Tests CACNA1A (CALCIUM CHANNEL, VOLTAGE- EPISODIC ATAXIA, TYPE 2, EA2 1160
DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT, CALCIUM » ATAXIA, EPISODIC, WITH NYSTAGMUS
CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4, » EPISODIC ATAXIA, NYSTAGMUS-ASSOCIATED
CACNL1A4) » CEREBELLOPATHY, HEREDITARY PAROXYSMAL
ATAXIA
» FAMILIAL PAROXYSMAL
ACETAZOLAMIDE-RESPONSIVE
» HEREDITARY PAROXYSMAL CEREBELLAR ATAXIA
» CEREBELLAR ATAXIA, PAROXYSMAL, ACETAZOLAMIDE-RESPONSIVE
Molecular Tests CACNA1A (CALCIUM CHANNEL, VOLTAGE- MIGRAINE, FAMILIAL HEMIPLEGIC, 1 1610

DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT, CALCIUM » MIGRAINE, SPORADIC HEMIPLEGIC
CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4,
CACNL1A4)
Molecular Tests CACNA1A (CALCIUM CHANNEL, VOLTAGE- MIGRAINE, FAMILIAL HEMIPLEGIC, 1 1160

DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT, CALCIUM » MIGRAINE, SPORADIC HEMIPLEGIC
CACNL1A4)
Molecular Tests CACNA1A (CALCIUM CHANNEL, VOLTAGE- SPINOCEREBELLAR ATAXIA 6, SCA6 810

DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT, CALCIUM
CACNL1A4)
Molecular Tests CACNA1C (CALCIUM CHANNEL, VOLTAGE- TIMOTHY SYNDROME 650

DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNL1A1; » LONG QT SYNDROME WITH SYNDACTYLY
CCHL1A1; CaV1.2)
Molecular Tests CACNA1C (CALCIUM CHANNEL, VOLTAGE- BRUGADA SYNDROME, TYPE 3 700
DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNL1A1;
CCHL1A1; CaV1.2)
Molecular Tests CACNA1F (CALCIUM CHANNEL, VOLTAGE- NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, CSNB2A 1370
DEPENDENT, ALPHA-1F SUBUNIT) » CSNB, INCOMPLETE (X-LINKED)
Molecular Tests CACNA1F (CALCIUM CHANNEL, VOLTAGE- CONE-ROD DYSTROPHY (X-LINKED), TYPE 3, CORDX3 1370
DEPENDENT, ALPHA-1F SUBUNIT)
Molecular Tests CACNA1F (CALCIUM CHANNEL, VOLTAGE- ALAND ISLAND EYE DISEASE 1370
DEPENDENT, ALPHA-1F SUBUNIT) » FORSIUS-ERIKSSON TYPE OCULAR ALBINISM
Molecular Tests CACNA1S (CACNL1A3) HYPOKALEMIC PERIODIC PARALYSIS, HOKPP 1210
» HYPERKALEMIC PERIODIC PARALYSIS
Molecular Tests CACNA1S (CACNL1A3) THYROTOXIC PERIODIC PARALYSIS 1210
» THYROTOXIC PERIODIC PARALYSIS

Molecular Tests CACNA1S (CACNL1A3) MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5, MHS5 1210
Molecular Tests CACNA2D4 (CALCIUM CHANNEL, VOLTAGE- RETINAL CONE DYSTROPHY, TYPE 4, RCD4 1270
DEPENDENT, ALPHA-2/DELTA SUBUNIT 4)
Molecular Tests CACNB4 (CALCIUM CHANNEL, VOLTAGE-DEPENDENT, EPILEPSY, IDIOPATHIC GENERALIZED 1310
BETA-4 SUBUNIT) » EPISODIC ATAXIA, TYPE 5, EA5
Molecular Tests CACNB4 (CALCIUM CHANNEL, VOLTAGE-DEPENDENT, EPILEPSY, JUVENILE MYOCLONIC, JME 1310
BETA-4 SUBUNIT) » JANZ SYNDROME
Molecular Tests CAPN3 (CALPAIN 3) MUSCULAR DYSTROPHY, LIMB GIRDLE, TYPE 2A, LGMD2A 1260
Molecular Tests CASK (CALCIUM/CALMODULIN-DEPENDENT SERINE FG SYNDROME, TYPE 4 2450

PROTEIN KINASE; VERTEBRATE LIN2 HOMOLOG;
CAMGUK, DROSOPHILA, HOMOLOG OF)
Molecular Tests CASK (CALCIUM/CALMODULIN-DEPENDENT SERINE MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR 2450
PROTEIN KINASE; VERTEBRATE LIN2 HOMOLOG; HYPOPLASIA
CAMGUK, DROSOPHILA, HOMOLOG OF) » MICPCH SYNDROME
Molecular Tests CASP10 (CASPASE 10, MCH4, CASP10B, FLICE2) AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 2, ALPS2 1200
Molecular Tests CASP8 (CASPASE 8, FLICE, MCH5) AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 1, ALPS, ALPS1A, ALPS1B 1600
Molecular Tests CASP8 (CASPASE 8, FLICE, MCH5) CASPASE 8 DEFICIENCY 1600
Molecular Tests CASQ2 (CALSEQUESTRIN 2) VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC 1220
Molecular Tests CASR (CALCIUM-SENSING RECEPTOR, PCAR1) HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE 1 860
Molecular Tests CASR (CALCIUM-SENSING RECEPTOR, PCAR1) » FAMILIAL BENIGN

HYPOCALCIURIC HYPERCALCEMIA
HYPERCALCEMIA, 1
FAMILIAL, TYPE 1 610
Molecular Tests CASR (CALCIUM-SENSING RECEPTOR, PCAR1) » FAMILIAL BENIGN HYPERCALCEMIA

HYPOPARATHYROIDISM, 1
FAMILIAL ISOLATED 860
» HYPOPARATHYROIDISM (AUTOSOMAL DOMINANT)
» HYPOCALCEMIA (AUTOSOMAL DOMINANT)
» HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL
Molecular Tests CASR (CALCIUM-SENSING RECEPTOR, PCAR1) HYPOPARATHYROIDISM, FAMILIAL ISOLATED 610
» HYPOPARATHYROIDISM (AUTOSOMAL DOMINANT)
Molecular Tests CASR (CALCIUM-SENSING RECEPTOR, PCAR1) NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM 860
Molecular Tests CASR (CALCIUM-SENSING RECEPTOR, PCAR1) NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM 610
Molecular Tests CASR (CALCIUM-SENSING RECEPTOR, PCAR1) HYPOCALCEMIA (AUTOSOMAL DOMINANT) 860
Molecular Tests CASR (CALCIUM-SENSING RECEPTOR, PCAR1) HYPOCALCEMIA (AUTOSOMAL DOMINANT) 610
Molecular Tests CAT (CATALASE) ACATALASEMIA 1810
» ACATALASIA
Molecular Tests CAV3 (CAVEOLIN 3) RIPPLING MUSCLE DISEASE 2, RMD 710
Molecular Tests CAV3 (CAVEOLIN 3) MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, LGMD1C 710
Molecular Tests CBS (CYSTATHIONINE BETA-SYNTHASE) HOMOCYSTINURIA 1510
Molecular Tests CBS (CYSTATHIONINE BETA-SYNTHASE) » CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

HOMOCYSTINURIA 710
» CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
Molecular Tests CCM2 (MALCAVERNIN) CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 2 2510
» CAVERNOUS ANGIOMA, FAMILIAL, TYPE 2
» HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS
ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, TYPE 2
Molecular Tests CCR5 RESISTANCE TO HIV (HUMAN IMMUNODEFICIENCY VIRUS TYPE 1) 490
Molecular Tests CD2AP (CD2-ASSOCIATED PROTEIN) FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 3 1410
Molecular Tests CD40 (CD40 ANTIGEN, B CELL-ASSOCIATED MOLECULE IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 1660
CD40 TUMOR NECROSIS FACTOR RECEPTOR » HYPER-IgM SYNDROME 3
SUPERFAMILY, MEMBER 5, TNFRSF5)
Molecular Tests CD40LG (CD40 LIGAND; TNFSF5; TUMOR NECROSIS IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1, HIGM1 870
FACTOR LIGAND SUPERFAMILY, MEMBER 5; TRAP;
GP39) » HYPER-IgM IMMUNODEFICIENCY (X-LINKED)
Molecular Tests CDAN1 (CODANIN 1, DISCS LOST, DROSOPHILA, ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE 1 2460
HOMOLOG OF) » DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE 1
Molecular Tests CDC73 (CELL DIVISION CYCLE PROTEIN 73, S. HYPERPARATHYROIDISM 1, HRPT1 970
CEREVISIAE, HOMOLOG OF; PARAFIBROMIN; HYRAX, » PARATHYROID ADENOMA, FAMILIAL
DROSOPHILA, HOMOLOG OF; HRPT2)
Molecular Tests CDC73 (CELL DIVISION CYCLE PROTEIN 73, S. HYPERPARATHYROIDISM 2, HRPT2 970
CEREVISIAE, HOMOLOG OF; PARAFIBROMIN; HYRAX, » HYPERPARATHYROIDISM, FAMILIAL PRIMARY, WITH MULTIPLE OSSIFYING JAW
DROSOPHILA, HOMOLOG OF; HRPT2) FIBROMAS
» HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY
» PARATHYROID ADENOMATOSIS, FAMILIAL CYSTIC
Molecular Tests CDC73 (CELL DIVISION CYCLE PROTEIN 73, S. PARATHYROID CARCINOMA 970
CEREVISIAE, HOMOLOG OF; PARAFIBROMIN; HYRAX,
DROSOPHILA, HOMOLOG OF; HRPT2)
Molecular Tests CDH1 (CADHERIN 1, UVOMORULIN) CANCER (SOMATIC MUTATIOS) 1310
Molecular Tests CDH1 (CADHERIN 1, UVOMORULIN) CANCER (SOMATIC MUTATIOS) 910
Molecular Tests CDH1 (CADHERIN 1, UVOMORULIN) GASTRIC CANCER, FAMILIAL DIFFUSE 1310
Molecular Tests CDH1 (CADHERIN 1, UVOMORULIN) GASTRIC CANCER, FAMILIAL DIFFUSE 910
Molecular Tests CDH1 (CADHERIN 1, UVOMORULIN) CLEFT LIP WITH OR WITHOUT CLEFT PALATE, WITH GASTRIC CANCER, FAMILIAL 1310
DIFFUSE
Molecular Tests CDH1 (CADHERIN 1, UVOMORULIN) CLEFT LIP WITH OR WITHOUT CLEFT PALATE, WITH GASTRIC CANCER, FAMILIAL 910
DIFFUSE
Molecular Tests CDH23 (CADHERIN 23; OTOCADHERIN; CADHERIN- USHER SYNDROME, TYPE 1D, USH1D 1410
RELATED FAMILY, MEMBER 23)
Molecular Tests CDH23 (CADHERIN 23; OTOCADHERIN; CADHERIN- DEAFNESS, DFNB12 1410
RELATED FAMILY, MEMBER 23) » DEAFNESS (AUTOSOMAL RECESSIVE), 12
Molecular Tests CDHR1 (CADHERIN-RELATED FAMILY, MEMBER 1; CONE-ROD DYSTROPHY, TYPE 15, CORD15 1270
PROTOCADHERIN 21; PCDH21; PHOTORECEPTOR
CADHERIN; PRCAD)
Molecular Tests CDK4 MALIGNANT MELANOMA, CMM3 1110
Molecular Tests CDK4 MALIGNANT MELANOMA, CMM3 620
Molecular Tests CDKL5 (CYCLIN-DEPENDENT KINASE-LIKE 5, STK9) ANGELMAN SYNDROME, ATYPICAL 1710
Molecular Tests CDKL5 (CYCLIN-DEPENDENT KINASE-LIKE 5, STK9) INFANTILE SPASMS (X-LINKED), ISS X 1710
» WEST SYNDROME
Molecular Tests CDKL5 (CYCLIN-DEPENDENT KINASE-LIKE 5, STK9) RETT SYNDROME, ATYPICAL 1710
Molecular Tests CDKN1B (CYCLIN-DEPENDENT KINASE INHIBITOR 1B; MULTIPLE ENDOCRINE NEOPLASIA, TYPE 4, MEN4 510
p27-KIP1)
Molecular Tests CDKN1C (CYCLIN-DEPENDENT KINASE INHIBITOR 1C, BECKWITH-WIEDEMANN SYNDROME 1220
p57-KIP2) » EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME
Molecular Tests CDKN2A (CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CUTANEOUS MALIGNANT MELANOMA 2, CMM2 800
P16; CDKN2)
Molecular Tests CDKN2A (CYCLIN-DEPENDENT KINASE INHIBITOR 2A; MALIGNANT MELANOMA WITH NEURAL CELL TUMORS 800
P16; CDKN2)
Molecular Tests CEBPA (CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; » MELANOMA-ASTROCYTOMA
LEUKEMIA, SYNDROME
ACUTE MYELOID, AML 760
C/EBP-ALPHA)
Molecular Tests CEL (CARBOXYL-ESTER LIPASE; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE 1010
LYSOPHOSPHOLIPASE; BILE SALT-STIMULATED DYSFUNCTION, MODY8
LIPASE) » DIABETES-PANCREATIC EXOCRINE DYSFUNCTION SYNDROME
Molecular Tests CEP290 (CENTROSOMAL PROTEIN, 290-KD, LEBER CONGENITAL AMAUROSIS, TYPE 1, LCA1 1130
NEPHROCYSTIN 6; NPHP6) » RETINAL BLINDNESS, CONGENITAL
Molecular Tests CEP290 (CENTROSOMAL PROTEIN, 290-KD, JOUBERT SYNDROME, TYPE 5 1130
NEPHROCYSTIN 6; NPHP6)
Molecular Tests CEP290 (CENTROSOMAL PROTEIN, 290-KD, SENIOR-LOKEN SYNDROME TYPE 6, SLSN6 1130
Molecular Tests CEP290 (CENTROSOMAL PROTEIN, 290-KD, MECKEL SYNDROME, TYPE 4 1130
Molecular Tests CERKL (CERAMIDE KINASE-LIKE) RETINITIS PIGMENTOSA, TYPE 26, RP26 990
Molecular Tests CETP (CHOLESTERYL ESTER TRANSFER PROTEIN, CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY 1110
LIPID TRANSFER PROTEIN I)
Molecular Tests CFB (COMPLEMENT FACTOR B;PROPERDIN FACTOR B; » CETP DEFICIENCY
MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF 1330
FACTOR B; C3 PROACTIVATOR; GLYCINE-RICH BETA-
GLYCOPROTEIN)
Molecular Tests CFC1 (CRYPTIC PROTEIN) CONOTRUNCAL HEART MALFORMATIONS 1120
» TRUNCUS ARTERIOSUS COMMUNIS
» DOUBLE-OUTLET RIGHT VENTRICLE
Molecular Tests CFC1 (CRYPTIC PROTEIN) HETEROTAXY, VISCERAL, TYPE 2 (AUTOSOMAL DOMINANT) 1120
Molecular Tests CFC1 (CRYPTIC PROTEIN) TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 2 1120
Molecular Tests CFH (HF1, COMPLEMENT FACTOR H) HEMOLYTIC-UREMIC SYNDROME 1510
Molecular Tests CFH (HF1, COMPLEMENT FACTOR H) » COMBINED DEFICIENCY

HEMOLYTIC-UREMIC OF FACTOR H AND FACTOR H-LIKE 1
SYNDROME 660
Molecular Tests CFHR5 (COMPLEMENT FACTOR H-RELATED 5) » COMBINED UREMIC

HEMOLYTIC DEFICIENCY OF FACTOR
SYNDROME, H AND FACTOR
ATYPICAL, H-LIKE 1 TO, TYPE 6
SUSCEPTIBILITY 990
Molecular Tests CFI (I FACTOR, COMPLEMENT COMPONENT 3 COMPLEMENT FACTOR 1 DEFICIENCY 1060
INACTIVATOR)
Molecular Tests CFL2 (COFILIN 2; COFILIN, MUSCLE) NEMALINE MYOPATHY 7, NEM7 610
Molecular Tests CFTR CYSTIC FIBROSIS, CF 860
Molecular Tests CFTR CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CBAVD 860
Molecular Tests CGI58 (COMPARATIVE GENE IDENTIFICATION 58, CHANARIN-DORFMAN DISEASE 1390
ABHD5)
» ICHTHYOTIC NEUTRAL LIPID STORAGE DISEASE
» NEUTRAL LIPID STORAGE DISEASE
» ICHTHYOSIFORM ERYTHRODERMA WITH LEUKOCYTE VACUOLATION

Molecular Tests CHAT (CHOLINE ACETYLTRANSFERASE) MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA 1360
» CONGENITAL MYASTHENIC SYNDROME, TYPE 1A
» MYASTHENIA GRAVIS, FAMILIAL INFANTILE, TYPE 2
Molecular Tests CHD7 (CHROMODOMAIN HELICASE DNA-BINDING CHARGE SYNDROME 1160

PROTEIN 7)
Molecular Tests CHD7 (CHROMODOMAIN HELICASE DNA-BINDING CHARGE SYNDROME 860
PROTEIN 7)
Molecular Tests CHEK2 (CHECKPOINT KINASE 2) BREAST CANCER, FAMILIAL 1210
Molecular Tests CHEK2 (CHECKPOINT KINASE 2) BREAST CANCER, FAMILIAL 750
Molecular Tests CHEK2 (CHECKPOINT KINASE 2) LI-FRAUMENI SYNDROME 2 1210
Molecular Tests CHM (REP1, RAB ESCORT PROTEIN 1, RAB CHOROIDEREMIA 2220
GERANYLGERANYL TRANSFERASE) » TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE
» CHOROIDAL SCLEROSIS
Molecular Tests CHMP2B (CHMP FAMILY, MEMBER 2B; CHROMATIN- FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED, FTD3 910
MODIFYING PROTEIN 2B; CHARGED MULTIVESICULAR
BODY PROTEIN 2B; VACUOLAR PROTEIN SORTING 2,
YEAST, HOMOLOG OF, B; VPS2B)
Molecular Tests CHN1 (CHIMERIN 1; MERIN, ALPHA-1 GTPase- DUANE RETRACTION SYNDROME, TYPE 2 1050
ACTIVATING PROTEIN, RHO, 2; ARHGAP2; MERIN,
ALPHA-1 GTPase-ACTIVATING PROTEIN, RHO, 2;
ARHGAP2)
Molecular Tests CHRNA1 (CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 960
POLYPEPTIDE 1; ACETYLCHOLINE RECEPTOR, » PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE
MUSCLE, ALPHA SUBUNIT)
Molecular Tests CHRNA1 (CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL 960
POLYPEPTIDE 1; ACETYLCHOLINE RECEPTOR, » MYASTHENIC SYNDROME, CONGENITAL, TYPE 2a
Molecular Tests CHRNA1 (CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL 960
POLYPEPTIDE 1; ACETYLCHOLINE RECEPTOR,
Molecular Tests CHRNA2 (CHOLINERGIC RECEPTOR, NEURONAL EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4 1160
NICOTINIC, ALPHA POLYPEPTIDE 2; ACETYLCHOLINE » EPILEPSY, FAMILIAL, WITH NOCTURNAL WANDERING AND ICTAL FEAR
RECEPTOR, NEURONAL NICOTINIC, ALPHA-2 SUBUNIT)
Molecular Tests CHRNA4 (CHOLINERGIC RECEPTOR, NEURONAL TOBACCO ADDICTION, SUSCEPTIBILITY TO 1010
NICOTINIC, ALPHA POLYPEPTIDE 4, ACETYLCHOLINE » NICOTINE DEPENDENCE, SUSCEPTIBILITY TO
Molecular Tests CHRNA4 (CHOLINERGIC RECEPTOR, NEURONAL EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1 1010
NICOTINIC, ALPHA POLYPEPTIDE 4, ACETYLCHOLINE
Molecular Tests CHRNB1 (CHOLINERGIC RECEPTOR, NICOTINIC, BETA MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL 960
POLYPEPTIDE 1;ACETYLCHOLINE RECEPTOR, MUSCLE, » MYASTHENIC SYNDROME, CONGENITAL, TYPE 2a
BETA SUBUNIT )
Molecular Tests CHRNB1 (CHOLINERGIC RECEPTOR, NICOTINIC, BETA MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE 960
POLYPEPTIDE 1;ACETYLCHOLINE RECEPTOR, MUSCLE, RECEPTOR DEFICIENCY
BETA SUBUNIT ) » MYASTHENIC SYNDROME, CONGENITAL, TYPE 1d
» MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH FACIAL
DYSMORPHISM
Molecular Tests CHRNB2 (CHOLINERGIC RECEPTOR, NEURONAL EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3 1010
NICOTINIC, BETA POLYPEPTIDE 2)
Molecular Tests CHRND (CHOLINERGIC RECEPTOR, NICOTINIC, DELTA MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL 1060
POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, MUSCLE, » MYASTHENIC SYNDROME, CONGENITAL, TYPE 2a
DELTA SUBUNIT)
Molecular Tests CHRND (CHOLINERGIC RECEPTOR, NICOTINIC, DELTA MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL 1060
POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, MUSCLE,
DELTA SUBUNIT)
Molecular Tests CHRNE (CHOLINERGIC RECEPTOR, NICOTINIC, MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL 960
EPSILON POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, » MYASTHENIC SYNDROME, CONGENITAL, TYPE 2a
MUSCLE, EPSILON SUBUNIT)
Molecular Tests CHRNE (CHOLINERGIC RECEPTOR, NICOTINIC, MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL 960
EPSILON POLYPEPTIDE; ACETYLCHOLINE RECEPTOR,
MUSCLE, EPSILON SUBUNIT)
Molecular Tests CHRNE (CHOLINERGIC RECEPTOR, NICOTINIC, MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE 960
EPSILON POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, RECEPTOR DEFICIENCY
MUSCLE, EPSILON SUBUNIT) » MYASTHENIC SYNDROME, CONGENITAL, TYPE 1d
DYSMORPHISM
Molecular Tests CHRNG (CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA MYASTHENIA GRAVIS, NEONATAL TRANSIENT 1300
POLYPEPTIDE)
Molecular Tests CHRNG (CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 1300
POLYPEPTIDE) » PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE
Molecular Tests CHRNG (CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA ESCOBAR SYNDROME 1300
POLYPEPTIDE) » MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
» MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE
» PTERYGIUM COLLI SYNDROME
» PTERYGIUM UNIVERSALE
Molecular Tests CHST14 (CARBOHYDRATE SULFOTRANSFERASE EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 910
14;DERMATAN-4-SULFOTRANSFERASE 1; D4ST1; N- » ADDUCTED THUMB, CLUBFOOT, AND PROGRESSIVE JOINT AND SKIN LAXITY
ACETYLGALACTOSAMINE 4-0 SULFOTRANSFERASE) SYNDROME
» ADDUCTED THUMB-CLUBFOOT SYNDROME
» DUNDAR SYNDROME
Molecular Tests NLRP3 (NLR FAMILY, PYRIN DOMAIN-CONTAINING 3; COLD URTICARIA, FCU 890
CIAS1 ; CRYOPYRIN)
Molecular Tests NLRP3 (NLR FAMILY, PYRIN DOMAIN-CONTAINING 3; » FAMILIAL COLDSYNDROME
MUCKLE-WELLS AUTOINFLAMMATORY SYNDROME 890
CIAS1 ; CRYOPYRIN)
Molecular Tests NLRP3 (NLR FAMILY, PYRIN DOMAIN-CONTAINING 3; CINCA SYNDROME 890
CIAS1 ; CRYOPYRIN)
Molecular Tests NLRP3 (NLR FAMILY, PYRIN DOMAIN-CONTAINING 3; » MULTISYSTEM
DEAFNESS, INFLAMMATORY DISEASE, NEONATAL ONSET, NOMID
DFNA34 890
CIAS1 ; CRYOPYRIN) » DEAFNESS, (AUTOSOMAL DOMINANT), WITH OR WITHOUT INFLAMMATION
Molecular Tests NLRP3 (NLR FAMILY, PYRIN DOMAIN-CONTAINING 3; KERATOENDOTHELITIS FUGAX HEREDITARIA 890
CIAS1 ; CRYOPYRIN)
Molecular Tests CIB2 (CALCIUM- AND INTEGRIN-BINDING PROTEIN 2; DEAFNESS, DFNB48 1130
DNA-DEPENDENT PROTEIN KINASE-INTERACTING
PROTEIN 2; KINASE-INTERACTING PROTEIN 2; KIP2)
Molecular Tests CIS2D (CDGSH IRON SULFUR DOMAIN PROTEIN 2; ZINC WOLFRAM SYNDROME, TYPE 2, WFS2 510
FINGER PROTEIN ZCD2; ENDOPLASMIC RETICULUM
INTERMEMBRANE SMALL PROTEIN)
Molecular Tests CLCN1 MYOTONIA LEVIOR 1210
Molecular Tests CLCN1 MYOTONIA CONGENITA (AUTOSOMAL DOMINANT) 1210
Molecular Tests CLCN1 » THOMSEN CONGENITA

MYOTONIA DISEASE (AUTOSOMAL RECESSIVE) 1210
Molecular Tests CLCN2 » BECKER MYOTONIA

EPILEPSY, JUVENILE MYOCLONIC, JME 1660
» JANZ SYNDROME
Molecular Tests CLCN2 EPILEPSY WITH GRAND MAL SEIZURES ON AWAKENING 1660
Molecular Tests CLCN2 EPILEPSY, JUVENILE ABSENCE 1660
Molecular Tests CLCN5 DENT NEPHROCALCINOSIS 1200
Molecular Tests CLCN5 DENT NEPHROCALCINOSIS 960
Molecular Tests CLCN5 NEPHROLITHIASIS (X-LINKED) 1200
Molecular Tests CLCN5 NEPHROLITHIASIS (X-LINKED) 960
Molecular Tests CLCN7 OSTEOPETROSIS, TYPE 2 (AUTOSOMAL DOMINANT), OPTA2 2280

» ALBERS-SCHONBERG DISEASE (AUTOSOMAL DOMINANT)
» MARBLE BONES (AUTOSOMAL DOMINANT)
» OSTEOSCLEROSIS FRAGILIS GENERALISATA
Molecular Tests CLCN7 OSTEOPETROSIS, TYPE 4 (AUTOSOMAL RECESSIVE), OPTB4 2280

» OSTEOPETROSIS, INFANTILE MALIGNANT, TYPE 2
Molecular Tests CLCNKA (CLCK1, CHLORIDE CHANNEL, KIDNEY, A) BARTTER SYNDROME, TYPE 4 1560
Molecular Tests CLCNKB (CLCNB, CHLORIDE CHANNEL, KIDNEY, B) BARTTER SYNDROME, TYPE 4 1410
Molecular Tests CLCNKB (CLCNB, CHLORIDE CHANNEL, KIDNEY, B) BARTTER SYNDROME, TYPE 3 1410
» BARTTER SYNDROME, CLASSIC
» BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA
Molecular Tests CLDN16 (CLAUDIN 16, PARACELLIN 1) HYPOMAGNESEMIA, PRIMARY 710
» MAGNESIUM, DEFECT IN RENAL TUBULAR TRANSPORT OF
Molecular Tests CLDN19 (CLAUDIN 19) HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT 635
» MACULAR COLOBOMA, BILATERAL, WITH HYPERCALCIURIA
Molecular Tests CLN PANEL: CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CEROID LIPOFUSCINOSIS, CLN 3800
CLN8, CLN10
Molecular Tests CLN2 (TRIPEPTIDYL PEPTIDASE I; TPP1) CEROID LIPOFUCSINOSIS, CLN2 1260
Molecular Tests CLN2 (TRIPEPTIDYL PEPTIDASE I; TPP1) » JANSKY-BIELSCHOWSKY

CEROID DISEASE
LIPOFUCSINOSIS, CLN2 770
Molecular Tests CLN3 » JANSKY-BIELSCHOWSKY

CEROID DISEASE
LIPOFUCSINOSIS, CLN3 1260
» VOGT-SPIELMEYER DISEASE
Molecular Tests CLN5 CEROID LIPOFUCSINOSIS, CLN5 1220
» NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT
Molecular Tests CLN6 CEROID LIPOFUCSINOSIS, CLN6 1030
Molecular Tests CLN8 » CEROID

CEROID LIPOFUCSINOSIS,CLN8
LIPOFUCSINOSIS, NEURONAL, LATE-INFANTILE 1220
» CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
» NORTHERN EPILEPSY
» EPILEPSY, PROGRESSIVE, WITH MENTAL RETARDATION
Molecular Tests CLRN1 (CLARIN 1; USH3A; USH3) USHER SYNDROME, TYPE 3, USH3 790
Molecular Tests CLRN1 (CLARIN 1; USH3A; USH3) RETINITIS PIGMENTOSA, TYPE 61, RP61 790
Molecular Tests CNGA1 (CYCLIC NUCLEOTIDE-GATED CHANNEL, RETINITIS PIGMENTOSA, TYPE 49, RP49 890
ALPHA-1; RETINAL ROD cGMP-GATED CHANNEL,
ALPHA SUBUNIT)
Molecular Tests CNGA3 (CYCLIC NUCLEOTIDE-GATED CHANNEL, ACHROMATOPSIA, TYPE 2 990
ALPHA-3; CONE PHOTORECEPTOR cGMP-GATED » COLORBLINDNESS, TOTAL
CHANNEL; CYCLIC NUCLEOTIDE-GATED CHANNEL, » ROD MONOCHROMATISM, TYPE 2
OLFACTORY, 3; CNG3)
Molecular Tests CNGB1 (CYCLIC NUCLEOTIDE-GATED CHANNEL, RETINITIS PIGMENTOSA, TYPE 45, RP45 1180
BETA-1; CYCLIC NUCLEOTIDE-GATED CHANNEL,
PHOTORECEPTOR, cGMP-GATED, 2; GLUTAMIC ACID-
RICH PROTEIN 1; RETINAL ROD cGMP-GATED
CHANNEL, BETA SUBUNIT)
Molecular Tests CNGB3 (CYCLIC NUCLEOTIDE-GATED CHANNEL, STARGARDT DISEASE, TYPE 1 1200
BETA-3) » MACULAR DEGENERATION, JUVENILE
Molecular Tests CNGB3 (CYCLIC NUCLEOTIDE-GATED CHANNEL, ACHROMATOPSIA, TYPE 3 1200

BETA-3)
Molecular Tests COCH (COCHLIN) DEAFNESS, DFNA9 1280
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 9

Molecular Tests COG7 (COMPONENT OF OLIGOMERIC GOLGI COMPLEX CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2E, CDG2E 2010
7)
Molecular Tests COG8 (COMPONENT OF OLIGOMERIC GOLGI COMPLEX CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2H, CDG2H 1040
8)
Molecular Tests COH1 COHEN SYNDROME, COH1 5420
Molecular Tests COH1 COHEN SYNDROME, COH1 790
Molecular Tests COL10A1 (COLLAGEN, TYPE X, ALPHA1) METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE 1140
Molecular Tests COL11A1 (COLLAGEN, TYPE 11, ALPHA-1) MARSHALL SYNDROME 3310
Molecular Tests COL11A1 (COLLAGEN, TYPE 11, ALPHA-1) STICKLER SYNDROME, TYPE 2 3310
Molecular Tests COL11A2 (COLLAGEN, TYPE 11, ALPHA-2) STICKLER SYNDROME, TYPE 3 3610
Molecular Tests COL11A2 (COLLAGEN, TYPE 11, ALPHA-2) OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, OSMED 3610
Molecular Tests COL11A2 (COLLAGEN, TYPE 11, ALPHA-2) WEISSENBACHER-ZWEYMULLER SYNDROME 3610
Molecular Tests COL11A2 (COLLAGEN, TYPE 11, ALPHA-2) » PIERRE ROBIN

DEAFNESS, SYNDROME WITH FETAL CHONDRODYSPLASIA
DFNA13 3610

Molecular Tests COL11A2 (COLLAGEN, TYPE 11, ALPHA-2) DEAFNESS, DFNA53 3610

Molecular Tests COL17A1 (COLLAGEN, TYPE 17, ALPHA-1) EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN 2810
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL
Molecular Tests COL1A1 EHLERS-DANLOS TYPE 1, EDS1 960
Molecular Tests COL1A1 OSTEOGENESIS IMPERFECTA TYPE 1, OI1 960
Molecular Tests COL1A1 and COL1A2 EHLERS-DANLOS TYPE 1, EDS1 960
Molecular Tests COL1A1 and COL1A2 EHLERS-DANLOS TYPE 7 , DOMINANT, EDS7 710
Molecular Tests COL1A1 and COL1A2 OSTEOGENESIS IMPERFECTA TYPE 1, OI1 960
Molecular Tests COL2A1 HYPOCHONDROGENESIS 1560
Molecular Tests COL2A1 STICKLER SYNDROME TYPE 1 1560
Molecular Tests COL2A1 KNIEST DYSPLASIA 1560
Molecular Tests COL2A1 SPONDYLOEPIPHYSEAL DYSPLASIA (SED CONGENITA) 1560
Molecular Tests COL2A1 ACHONDROGENESIS TYPE 2 1560
Molecular Tests COL3A1 FIBROMUSCULAR DYSPLASIA 910
Molecular Tests COL4A1 PORENCEPHALY, FAMILIAL 1905

» HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY
Molecular Tests COL4A1 PORENCEPHALY, FAMILIAL 1110
» HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY
Molecular Tests COL4A1 BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE 1905
» LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY
» RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND
LEUKOENCEPHALOPATHY
Molecular Tests COL4A1 BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE 1110
» LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY
» RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND
LEUKOENCEPHALOPATHY
Molecular Tests COL4A1 ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE 1905
CRAMPS, HANAC
Molecular Tests COL4A1 ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE 1110
CRAMPS, HANAC
Molecular Tests COL4A3 HEMATURIA, BENIGN FAMILIAL 1610
Molecular Tests COL4A3 » THIN-BASEMENT-MEMBRANE

ALPORT NEPHROPATHY
SYNDROME (AUTOSOMAL RECESSIVE) 1610
Molecular Tests COL4A4 HEMATURIA, BENIGN FAMILIAL 1610
Molecular Tests COL4A4 » THIN-BASEMENT-MEMBRANE

ALPORT NEPHROPATHY
Molecular Tests COL4A5 ALPORT SYNDROME (X-LINKED) 1610
Molecular Tests COL4A5 » ALPORT

ALPORT SYNDROME-LIKE
SYNDROME HEREDITARY NEPHRITIS
(X-LINKED) 810
Molecular Tests COL5A1 » ALPORT SYNDROME-LIKE

EHLERS-DANLOS HEREDITARY NEPHRITIS
TYPE 1, EDS1 960
Molecular Tests COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN 3510
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL (AUTOSOMAL DOMINANT)
Molecular Tests COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL DOMINANT) 3510
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE
Molecular Tests COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) EPIDERMOLYSIS BULLOSA, PRETIBIAL 3510
Molecular Tests COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND 3510
DEFORMITY OF NAILS
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE

Molecular Tests COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL RECESSIVE) 3510
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, TYPE HALLOPEAU-SIEMENS
Molecular Tests COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) EPIDERMOLYSIS BULLOSA PRURIGINOSA (AUTOSOMAL DOMINANT AND 3510
RECESSIVE)
Molecular Tests COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE 3510
» EPIDERMOLYSIS BULLOSA SIMPLEX SUPERFICIALIS

Molecular Tests COL9A1 (COLLAGEN, TYPE 9, ALPHA-1; CARTILAGE- STICKLER SYNDROME, TYPE 1 2610
SPECIFIC SHORT COLLAGEN)
Molecular Tests COL9A1 (COLLAGEN, TYPE 9, ALPHA-1; CARTILAGE- EPIPHYSEAL DYSPLASIA, MULTIPLE, TYPE 6, EDM6 2610
SPECIFIC SHORT COLLAGEN)
Molecular Tests COL9A2 (COLLAGEN, TYPE 9, ALPHA-2) EPIPHYSEAL DYSPLASIA, MULTIPLE, TYPE 2, EDM2 2310
Molecular Tests COLQ (COLLAGENIC TAIL OF ENDPLATE ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY 1360
ACETYLCHOLINESTERASE; ACETYLCHOLINESTERASE- » ENGEL CONGENITAL MYASTHENIC SYNDROME
ASSOCIATED COLLAGEN) » CONGENITAL MYASTHENIC SYNDROME, TYPE 1C
Molecular Tests COMP MULTIPLE EPIPHYSEAL DYSPLASIA 1, EDM1 1810
Molecular Tests COMP PSEUDOACHONDROPLASIA 1810
Molecular Tests COQ2 (COQ2, S. CEREVISIAE, HOMOLOG OF; COENZYME Q10 DEFICIENCY 960
PARAHYDROXYBENZOATE-
POLYPRENYLTRANSFERASE, MITOCHONDRIAL)
Molecular Tests COQ9 (COQ9, S. CEREVISIAE, HOMOLOG OF) COENZYME Q10 DEFICIENCY, PRIMARY, TYPE 5 1300
Molecular Tests COX10 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN CYTOCHROME c OXIDASE DEFICIENCY 1190
COX10, HEME A:FARNESYLTRANSFERASE)
» COX DEFICIENCY
Molecular Tests COX10 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN LEIGH SYNDROME 1190
COX10, HEME A:FARNESYLTRANSFERASE)
Molecular Tests COX15 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN CYTOCHROME c OXIDASE DEFICIENCY 1330
COX15)
» COX DEFICIENCY
Molecular Tests COX15 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN LEIGH SYNDROME 1330
COX15)
Molecular Tests COX4I2 (CYTOCHROME c OXIDASE, SUBUNIT IV, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND 890
ISOFORM 2) CALVARIAL HYPEROSTOSIS
Molecular Tests COX6B1 (CYTOCHROME c OXIDASE, SUBUNIT VIb, CYTOCHROME c OXIDASE DEFICIENCY 810
POLYPEPTIDE 1) » COX DEFICIENCY
Molecular Tests CP (CERULOPLASMIN; FERROXIDASE) ACERULOPLASMINEMIA 1510
» HYPOCERULOPLASMINEMIA
» CERULOPLASMIN DEFICIENCY
» HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA
Molecular Tests CPOX (CPO, COPROPORPHYRINOGEN OXIDASE) COPROPORPHYRIA 1050

» COPROPORPHYRINOGEN OXIDASE DEFICIENCY
» HARDEROPORPHYRINURIA
Molecular Tests CPS1 (CARBAMOYL PHOSPHATE SYNTHETASE 1) CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY, HYPERAMMONEMIA DUE TO 2740
» CPS1 DEFICIENCY
Molecular Tests CPT1A (CARNITINE PALMITOYLTRANSFERASE 1, CARNITINE PALMITOYLTRANSFERASE 1A DEFICIENCY 1160

LIVER, CPT1)
Molecular Tests CPT1B (CARNITINE PALMITOYLTRANSFERASE 1, »
NOCPT1 DEFICIENCY
DISEASE 2330
MUSCLE)
Molecular Tests CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, MYOPATHY, VARIABLE 1190
CPT2)
Molecular Tests CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LATE-ONSET 1190
CPT2)
» CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, MYOPATHIC
» CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, ADULT-ONSET

Molecular Tests CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, INFANTILE 1190
CPT2)
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY WITH HYPOKETOTIC

HYPOGLYCEMIA
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, HEPATOCARDIOMUSCULAR

Molecular Tests CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LETHAL NEONATAL 1190
CPT2)
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, NEONATAL

Molecular Tests CRB1 (CRUMBS, DROSOPHILA, HOMOLOG OF, 1) PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY 1080
Molecular Tests CRB1 (CRUMBS, DROSOPHILA, HOMOLOG OF, 1) RETINITIS PIGMENTOSA, TYPE 12, RP12 1080
» RP12 WITH COATS-LIKE EXUDATIVE VASCULOPATHY
» RETINITIS PIGMENTOSA WITH PARAARTERIOLAR PRESERVATION OF RETINAL

Molecular Tests CRB1 (CRUMBS, DROSOPHILA, HOMOLOG OF, 1) LEBER CONGENITAL AMAUROSIS DUE TO DEFECT IN CRB1 1080
Molecular Tests CREBBP (CREB-BINDING PROTEIN, CBP) RUBINSTEIN-TAYBI SYNDROME 1220

» BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL
RETARDATION
» BROAD THUMB-HALLUX SYNDROME
Molecular Tests CREBBP (CREB-BINDING PROTEIN, CBP) RUBINSTEIN-TAYBI SYNDROME 660

RETARDATION
Molecular Tests CRTAP (CARTILAGE-ASSOCIATED PROTEIN) OSTEOGENESIS IMPERFECTA, TYPE 7, OI7 860
Molecular Tests CRX (CONE-ROD HOMEOBOX-CONTAINING GENE) CONE-ROD DYSTROPHY, TYPE 2, CORD2 790
Molecular Tests CRX (CONE-ROD HOMEOBOX-CONTAINING GENE) LEBER CONGENITAL AMAUROSIS, TYPE 7, LCA7 790
Molecular Tests CSRP3 (CYSTEINE- AND GLYCINE-RICH PROTEIN 3; LIM CARDIOMYOPATHY, DILATED, TYPE 1M 1370
DOMAIN PROTEIN, CARDIAC)
Molecular Tests CSRP3 (CYSTEINE- AND GLYCINE-RICH PROTEIN 3; LIM CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, TYPE 12 1370
DOMAIN PROTEIN, CARDIAC)
Molecular Tests CSTB (CYSTATIN B, STEFIN B) EPILEPSY, PROGRESSIVE MYOCLONUS 1130
Molecular Tests CTDP1 (C-TERMINAL DOMAIN OF RNA POLYMERASE II » UNVERRICH-LUNDBORG

CONGENITAL CATARACTS,DISEASE
FACIAL DYSMORPHISM, AND NEUROPATHY, CCFDN 560
SUBUNIT A, PHOSPHATASE OF, SUBUNIT 1;
TRANSCRIPTION FACTOR IIF-ASSOCIATING CTD
PHOSPHATASE 1; FCP1)
Molecular Tests CTF1 (CARDIOTROPHIN 1) CARDIOMYOPATHY, DILATED 1270
Molecular Tests CTNS (CYSTINOSIN) CYSTINOSIS, ADULT NONNEPHROPATHIC 1160
Molecular Tests CTNS (CYSTINOSIN) CYSTINOSIS, ADULT NONNEPHROPATHIC 510
Molecular Tests CTNS (CYSTINOSIN) CYSTINOSIS, NEPHROPATHIC 1160
Molecular Tests CTNS (CYSTINOSIN) CYSTINOSIS, NEPHROPATHIC 510
Molecular Tests CTNS (CYSTINOSIN) CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT, NEPHROPATHIC TYPE 1160
» CYSTINOSIS, INTERMEDIATE
Molecular Tests CTNS (CYSTINOSIN) CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT, NEPHROPATHIC TYPE 510
» CYSTINOSIS, INTERMEDIATE
Molecular Tests CTRC (CHYMOTRYPSIN C, CALDECRIN) HEREDITARY PANCREATITIS 1270
Molecular Tests CTSK (CATHEPSIN K) PYCNODYSOSTOSIS 910
Molecular Tests CYBA (p22 PHOX) CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) CYTOCHROME-b- 1250
NEGATIVE FORM
Molecular Tests CYBB (p91 PHOX) CHRONIC GRANULOMATOUS DISEASE (X-LINKED) 1060
Molecular Tests CYP11A1 (CYTOCHROME P450, SUBFAMILY XIA, ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL 1410
POLYPEPTIDE 1;CHOLESTEROL SIDE-CHAIN
CLEAVAGE ENZYME;CYTOCHROME P450SCC
Molecular Tests CYP11A1 (CYTOCHROME P450, SUBFAMILY XIA, LIPOID CONGENITAL ADRENAL HYPERPLASIA 1410
POLYPEPTIDE 1;CHOLESTEROL SIDE-CHAIN
CLEAVAGE ENZYME;CYTOCHROME P450SCC
Molecular Tests CYP11B1 (CYTOCHROME P450, SUBFAMILY 11B, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE 560
POLYPEPTIDE 1, STEROID 11-BETA-HYDROXYLASE, DEFICIENCY
P450C11) » ADRENAL HYPERPLASIA 4 STEROID 11-BETA-HYDROXYLASE DEFICIENCY
» 11-@BETA-HYDROXYLASE DEFICIENCY
» ADRENAL HYPERPLASIA, HYPERTENSIVE FORM
» P450C11B1 DEFICIENCY
Molecular Tests CYP11B2 (CYTOCHROME P450, SUBFAMILY XIB, CORTICOSTERONE METHYLOXIDASE TYPE 1 DEFICIENCY 1010
POLYPEPTIDE 2, STEROID 11/18-BETA-HYDROXYLASE, » ALDOSTERONE DEFICIENCY 1
STEROID 18-OXIDASE, ALDOSTERONE SYNTHASE, » HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1
CORTICOSTERONE METHYLOXIDASE) » ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE
» 18-@HYDROXYLASE DEFICIENCY
» STEROID 18-@HYDROXYLASE DEFICIENCY
Molecular Tests CYP17A1 (CYTOCHROME P450, FAMILY 17, SUBFAMILY ADRENAL HYPERPLASIA, TYPE 5 1010
A, POLYPEPTIDE 1; STEROID 17-ALPHA- » 17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY
MONOOXYGENASE) » 17-@ALPHA-HYDROXYLASE DEFICIENCY
Molecular Tests CYP19A1 (AROMATASE) AROMATASE DEFICIENCY 960
» PSEUDOHERMAPHRODITISM, FEMALE, DUE TO PLACENTAL AROMATASE

DEFICIENCY
Molecular Tests CYP1B1 (CYTOCHROME P450, SUBFAMILY 1, GLAUCOMA 3, PRIMARY INFANTILE A, GLC3A 760
POLYPEPTIDE 1)
Molecular Tests CYP1B1 (CYTOCHROME P450, SUBFAMILY 1, » BUPHTHALMOS
PETERS ANOMALY 760
POLYPEPTIDE 1)
Molecular Tests CYP21A2 HYPERANDROGENISM 1210
» 21-ALPHA-HYDROXYLASE DEFICIENCY
» CYP21 DEFICIENCY
Molecular Tests CYP21A2 ADRENAL HYPERPLASIA, CONGENITAL DUE TO 21-HYDROXYLASE DEFICIENCY, 1210
CAH1
» 21-ALPHA-HYDROXYLASE DEFICIENCY
Molecular Tests CYP24A1 (CYTOCHROME P450, FAMILY 24, SUBFAMILY HYPERCALCEMIA, INFANTILE 1300
A, POLYPEPTIDE 1; VITAMIN D 24-HYDROXYLASE) » TRIHYDROXYCOPROSTANIC ACID IN BILE
Molecular Tests CYP27A1 CEREBROTENDINOUS XANTHOMATOSIS, CTX 840
Molecular Tests CYP27B1 » CEREBRAL CHOLESTERINOSIS

PSEUDO-VITAMIN D DEFICIENCY RICKETS (AUTOSOMAL RECESSIVE), PDDR 930
» RICKETS, PSEUDO-VITAMIN D DEFICIENCY RICKETS (AUTOSOMAL RECESSIVE)

Molecular Tests DARS2 (ASPARTYL-tRNA SYNTHETASE 2) LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT 1710
AND LACTATE ELEVATION
» MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY
Molecular Tests DAX1 (NROB1) ADDISON DISEASE (X-LINKED) 1020
» ADRENAL HYPOPLASIA, CONGENITAL
» CONGENITAL ADRENOCORTICAL HYPOPLASIA WITH HYPOGONADOTROPIC

Molecular Tests DBH (DOPAMINE BETA-HYDROXYLASE, PLASMA; DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL 2180
DOPAMINE BETA-MONOOXYGENASE) » NOREPINEPHRINE DEFICIENCY
» NORADRENALINE DEFICIENCY
Molecular Tests DBT (DIHYDROLIPOAMIDE BRANCHED-CHAIN MAPLE SYRUP URINE DISEASE 1560
TRANSACYLASE; BRANCHED-CHAIN » BRANCHED-CHAIN KETOACIDURIA
ACYLTRANSFERASE, E2 COMPONENT) » BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY
Molecular Tests DBT (DIHYDROLIPOAMIDE BRANCHED-CHAIN MAPLE SYRUP URINE DISEASE 910
TRANSACYLASE; BRANCHED-CHAIN » BRANCHED-CHAIN KETOACIDURIA
ACYLTRANSFERASE, E2 COMPONENT) » BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY
Molecular Tests DCAF17 (DDB1- AND CUL4-ASSOCIATED FACTOR 17; WOODHOUSE-SAKATI SYNDROME 2450
CHROMOSOME 2 OPEN READING FRAME 37; C2ORF37) » HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION,
DEAFNESS, AND EXTRAPYRAMIDAL SYNDROME
» EXTRAPYRAMIDAL DISORDER, PROGRESSIVE, WITH PRIMARY HYPOGONADISM,
MENTAL RETARDATION, AND ALOPECIA
Molecular Tests DCLRE1C (DNA CROSS-LINK REPAIR PROTEIN 1C, SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING 2570
ARTEMIS) RADIATION, SCID
» SEVERE COMBINED IMMUNODEFICIENCY (AUTOSOMAL RECESSIVE), T CELL-
NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING
RADIATION
» SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE
Molecular Tests DCLRE1C (DNA CROSS-LINK REPAIR PROTEIN 1C, OMENN SYNDROME 2570
ARTEMIS) » RETICULOENDOTHELIOSIS, FAMILIAL, WITH EOSINOPHILIA
» SEVERE COMBINED IMMUNODEFICIENCY WITH HYPEREOSINOPHILIA
Molecular Tests DCTN1 (DYNACTIN 1) AMYOTROPHIC LATERAL SCLEROSIS, TYPE 1, ALS1 2510
Molecular Tests DCTN1 (DYNACTIN 1) NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE 7B 2510
Molecular Tests DCX (DOUBLECORTIN) DOUBLE CORTEX SYNDROME 1060
» LISSENCEPHALY (X-LINKED)
Molecular Tests DCX (DOUBLECORTIN) DOUBLE CORTEX SYNDROME 890
» LISSENCEPHALY (X-LINKED)
Molecular Tests DDC (DOPA DECARBOXYLASE; AROMATIC L-AMINO AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY 1160
ACID DECARBOXYLASE; AADC) » AADC DEFICIENCY
» DOPA DECARBOXYLASE DEFICIENCY
Molecular Tests DES (DESMIN) MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 1080
Molecular Tests DES (DESMIN) » DESMINOPATHY, PRIMARY

CARDIOMYOPATHY, DILATED, 1I, CMD1I 1080
Molecular Tests DGUOK (DEOXYGUANOSINE KINASE, MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM 910
MITOCHONDRIAL; DGK)
Molecular Tests DHCR7 (DEHYDROCHOLESTEROL REDUCTASE) SMITH-LEMLI-OPITZ SYNDROME, SLO 860
Molecular Tests DHDDS (DEHYDRODOLICHYL DIPHOSPHATE RETINITIS PIGMENTOSA, TYPE 59, RP59 840
SYNTHASE; DEDOL-PP SYNTHASE)
Molecular Tests DHH (DESERT HEDGEHOG) GONADAL DYSGENESIS, XY TYPE 1050
Molecular Tests DHH (DESERT HEDGEHOG) GONADAL DYSGENESIS, 46XY, PARTIAL, WITH MINIFASCICULAR NEUROPATHY 1050
Molecular Tests DIA1 (CYTOCHROME b5 REDUCTASE, CYB5R) METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE 1200
Molecular Tests DIO1 (DEIODINASE, IODOTHYRONINE, TYPE 1; HYPERTHYROXINEMIA DUE TO DECREASED PERIPHERAL CONVERSION OF T4 660
THYROXINE DEIODINASE, TYPE 1) » 5-PRIME-DEIODINASE DEFICIENCY, GENERALIZED, CAUSING EUTHYROID
HYPERTHYROXINEMIA
Molecular Tests DIO2 (DEIODINASE, IODOTHYRONINE, TYPE 2; UNKNOWN DISEASE 710

THYROXINE DEIODINASE, TYPE 2)
Molecular Tests DIO3 (DEIODINASE, IODOTHYRONINE, TYPE 3; UNKNOWN DISEASE 560
THYROXINE DEIODINASE, TYPE 3)
Molecular Tests DJ1 PARKINSON DISEASE, TYPE 7, PARK7 (AUTOSOMAL RECESSIVE) 940
Molecular Tests DJ1 PARKINSON DISEASE, TYPE 7, PARK7 (AUTOSOMAL RECESSIVE) 940
Molecular Tests DKC1 (DYSKERIN) HOYERAAL-HREIDARSSON SYNDROME 2150
Molecular Tests DKC1 (DYSKERIN) DYSKERATOSIS CONGENITA (X-LINKED), DKC 2150
» ZINSSER-COLE-ENGMAN SYNDROME
Molecular Tests DLAT (DIHYDROLIPOAMIDE S-ACETYLTRANSFERASE; PYRUVATE DEHYDROGENASE E2 DEFICIENCY 1760
PYRUVATE DEHYDROGENASE COMPLEX, E2 SUBUNIT; » LACTIC ACIDEMIA DUE TO DEFECT OF E2 LIPOYL TRANSACETYLASE OF THE
PDCE2; M2 ANTIGEN COMPLEX, 70-KD SUBUNIT) PYRUVATE DEHYDROGENASE COMPLEX
Molecular Tests DLD (DIHYDROLIPOAMIDE DEHYDROGENASE; MAPLE SYRUP URINE DISEASE 1840
BRANCHED CHAIN ALPHA-KETO ACID » BRANCHED-CHAIN KETOACIDURIA
DEHYDROGENASE COMPLEX, E3 COMPONENT; » BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY
PYRUVATE DEHYDROGENASE COMPONENT E3; » KETO ACID DECARBOXYLASE DEFICIENCY
GLYCINE CLEAVAGE SYSTEM L PROTEIN) » LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO
Molecular Tests DLG3 MENTAL RETARDATION, NONSPECIFIC (X-LINKED) 1410
Molecular Tests DLL3 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1, SCDO1 960
Molecular Tests DMD (DYSTROPHIN) BECKER MUSCULAR DYSTROPHY, BMD 810
Molecular Tests DMD (DYSTROPHIN) » MUSCULAR

BECKER DYSTROPHY,
MUSCULAR BECKERBMD
DYSTROPHY, MUSCULAR DYSTROPHY 1710

DILATED DYSTROPHY, BECKER
CARDIOMYOPATHY MUSCULAR DYSTROPHY
(X-LINKED) 810
Molecular Tests DMD (DYSTROPHIN) DILATED CARDIOMYOPATHY (X-LINKED) 1710
Molecular Tests DMD (DYSTROPHIN) DUCHENNE MUSCULAR DYSTROPHY, DMD 810

DUCHENNE DYSTROPHY,
MUSCULAR DUCHENNE
DYSTROPHY, MUSCULAR DYSTROPHY
DMD 1710
Molecular Tests DMP1 (DENTIN MATRIX ACIDIC PHOSPHOPROTEIN 1) » MUSCULAR DYSTROPHY,

HYPOPHOSPHATEMIC DUCHENNE
RICKETS MUSCULAR
(AUTOSOMAL DYSTROPHY
RECESSIVE) 905
» HYPOPHOSPHATEMIA (AUTOSOMAL RECESSIVE)
Molecular Tests DMPK (DM KINASE, MYOTONIN) MYOTONIC DYSTROPHY, TYPE 1 810
Molecular Tests DMPK (DM KINASE, MYOTONIN) » STEINERT DYSTROPHY,

MYOTONIC DISEASE TYPE 1 810
Molecular Tests DNASE1 (DEOXYRIBONUCLEASE 1; DNase 1, » STEINERTLUPUS

SYSTEMIC DISEASE
ERYTHEMATOSUS 1910
LYSOSOMAL)
Molecular Tests DNM2 (DYNAMIN 2, DYN2) MYOPATHY, CENTRONUCLEAR (AUTOSOMAL DOMINANT) 1860
Molecular Tests DNM2 (DYNAMIN 2, DYN2) CHARCOT-MARIE-TOOTH DISEASE, INTERMEDIATE B, CMTDIB, (AUTOSOMAL 1860
DOMINANT)
Molecular Tests DOK7 (DOWNSTREAM OF TYROSINE KINASE 7) MYASTHENIA, LIMB-GIRDLE, FAMILIAL 1060
» CONGENITAL MYASTHENIC SYNDROME, TYPE 1B
Molecular Tests DPAGT1 (DOLICHYL-PHOSPHATE N- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1J, CDG1J 1420
ACETYLGLUCOSAMINEPHOSPHOTRANSFERASE; UDP-
GlcNAc:DOLICHYL-PHOSPHATE N-
ACETYLGLUCOSAMINE-PHOSPHOTRANSFERASE)
Molecular Tests DPM1 (DOLICHYL-PHOSPHATE CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1E, CDG1E 1270
MANNOSYLTRANSFERASE 1, CATALYTIC SUBUNIT;
DOLICHOL-PHOSPHATE MANNOSYLTRANSFERASE )
Molecular Tests DRPLA (ATROPHIN 1) DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY, DRPLA 510
Molecular Tests DSC2 (DESMOCOLLIN 2, DESMOSOMAL ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 11, ARVD11 1370
GLYCOPROTEIN 2/3) » ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 10, ARVC10
Molecular Tests DSG2 (DESMOGLEIN 2) ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 10, ARVD10 1320
» ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 10, ARVC10
Molecular Tests DSP (DESMOPLAKIN) KERATOSIS PALMOPLANTARIS STRIATA, TYPE 2 1010
Molecular Tests DSP (DESMOPLAKIN) CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA 1010
» PALMOPLANTAR KERATODERMA WITH LEFT VENTRICULAR CARDIOMYOPATHY
AND WOOLLY HAIR
» CARVAJAL SYNDROME
Molecular Tests DSP (DESMOPLAKIN) ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 8, ARVD8 1010
Molecular Tests DSP (DESMOPLAKIN) SKIN FRAGILITY-WOOLLY HAIR SYNDROME 1010
Molecular Tests DSP (DESMOPLAKIN) EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC 1010
Molecular Tests DTNBP1 (HPS7; DYSTROBREVIN-BINDING PROTEIN 1; HERMANSKY-PUDLAK SYNDROME, TYPE 7, HPS7 890
DYSBINDIN; SANDY, MOUSE, HOMOLOG OF; SDY)
Molecular Tests DYM (DYMECLIN) DYGGVE-MELCHIOR-CLAUSEN DISEASE 2110
Molecular Tests DYM (DYMECLIN) SMITH-MCCORT DYSPLASIA 2110
Molecular Tests DYNC2H1 (DYNEIN, CYTOPLASMIC 2, HEAVY CHAIN 1; SHORT RIB-POLYDACTYLY SYNDROME, TYPE 3 3170
DNCH2; DHC2) » VERMA-NAUMOFF SYNDROME
» POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE 3
Molecular Tests DYNC2H1 (DYNEIN, CYTOPLASMIC 2, HEAVY CHAIN 1; SHORT RIB-POLYDACTYLY SYNDROME, TYPE 2 3170
DNCH2; DHC2) » MAJEWSKI SYNDROME
» POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE 2
Molecular Tests DYNC2H1 (DYNEIN, CYTOPLASMIC 2, HEAVY CHAIN 1; ASPHYXIATING THORACIC DYSTROPHY, TYPE 3 3170
DNCH2; DHC2)
Molecular Tests DYSF (DYSFERLIN) MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, LGMD2B 2320
Molecular Tests DYSF (DYSFERLIN) MIYOSHI MYOPATHY 2320
Molecular Tests DYSF (DYSFERLIN) » MUSCULARDISTAL,

MYOPATHY, DYSTROPHY,
WITH DISTAL,
ANTERIORLATE-ONSET (AUTOSOMAL RECESSIVE)
TIBIAL ONSET 2320
Molecular Tests DYT1 (TOR1A, TORSIN A) DYSTONIA MUSCULORUM DEFORMANS 860
Molecular Tests DYT1 (TOR1A, TORSIN A) » TORSION DYSTONIA,

DYSTONIA MUSCULORUMEARLY ONSET, DYT1
DEFORMANS 510
Molecular Tests EBP (EMOPAMIL-BINDING PROTEIN, 3-@BETA- » TORSION DYSTONIA,PUNCTATA

CHONDRODYSPLASIA EARLY ONSET, DYT1
2 (X-LINKED DOMINANT), CDPX2 510
HYDROXYSTEROID-DELTA-8, DELTA-7 ISOMERASE)
» CONRADI-HUNERMANN SYNDROME
Molecular Tests ECM1 LIPOID PROTEINOSIS OF URBACH AND WIETHE 820
» HYALINOSIS CUTIS ET MUCOSAE
Molecular Tests ED1 (ECTODYSPLASIN A, EDA) ECTODERMAL DYSPLASIA, HYPO-ANHIDROTIC (X-LINKED), ED1 1060
Molecular Tests EDAR (ECTODYSPLASIN 1) ANHIDROTIC ECTODERMAL DYSPLASIA 3, ED3 1060
» HYPOHIDROTIC ECTODERMAL DYSPLASIA (AUTOSOMAL DOMINANT), EDA3

Molecular Tests EDAR (ECTODYSPLASIN 1) HYPOHIDROTIC ECTODERMAL DYSPLASIA (AUTOSOMAL RECESSIVE) 1060
Molecular Tests EDARADD (EDAR-ASSOCIATED DEATH DOMAIN) ANHIDROTIC ECTODERMAL DYSPLASIA 3, ED3 1060
» HYPOHIDROTIC ECTODERMAL DYSPLASIA (AUTOSOMAL DOMINANT), EDA3

Molecular Tests EDARADD (EDAR-ASSOCIATED DEATH DOMAIN) HYPOHIDROTIC ECTODERMAL DYSPLASIA (AUTOSOMAL RECESSIVE) 1060
Molecular Tests EDN3 (ENDOTHELIN 3) CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL 790

» ONDINE-HIRSCHSPRUNG DISEASE
» HADDAD SYNDROME
» AUTONOMIC CONTROL, CONGENITAL FAILURE OF
Molecular Tests EDN3 (ENDOTHELIN 3) WAARDENBURG SYNDROME, TYPE 4B, WS4B 790
» WAARDENBURG SYNDROME, TYPE 4B, WITH HIRSCHSPRUNG DISEASE
Molecular Tests EDN3 (ENDOTHELIN 3) HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, TYPE 4, HSCR4 790
Molecular Tests EDNRB (ENDOTHELIN RECEPTOR, TYPE B) WAARDENBURG-SHAH SYNDROME 840

» WAARDENBURG SYNDROME, TYPE 4
» WAARDENBURG-HIRSCHSPRUNG DISEASE
Molecular Tests EDNRB (ENDOTHELIN RECEPTOR, TYPE B) HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, TYPE 2 840
Molecular Tests EDNRB (ENDOTHELIN RECEPTOR, TYPE B) ABCD SYNDROME 840

» ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF
THE GUT, AND DEAFNESS
Molecular Tests EFEMP1 (EGF-CONTAINING FIBULIN-LIKE DOYNE HONEYCOMB RETINAL DYSTROPHY 1140
EXTRACELLULAR MATRIX PROTEIN 1, FIBULIN 3, » MALATTIA LEVENTINESE
FIBRILLIN-LIKE) » DRUSEN, RADIAL (AUTOSOMAL DOMINANT)
Molecular Tests EFHC1 (EF-HAND DOMAIN (C-TERMINAL)-CONTAINING EPILEPSY, MYOCLONIC JUVENILE 1110
PROTEIN 1; MYOCLONIN 1) » JANZ SYNDROME
» PETIT MAL, IMPULSIVE
Molecular Tests EFHC1 (EF-HAND DOMAIN (C-TERMINAL)-CONTAINING EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, TYPE 1 1110
PROTEIN 1; MYOCLONIN 1)
Molecular Tests EFNB1 (EPHRIN B1, EPLG2, LERK2, EFL3) CRANIOFRONTONASAL SYNDROME, CFNS 1160
Molecular Tests EFNB1 (EPHRIN B1, EPLG2, LERK2, EFL3) » CRANIOFRONTONASAL

CRANIOFRONTONASAL DYSOSTOSIS
SYNDROME, CFNS 880
Molecular Tests EGF (EPIDERMAL GROWTH FACTOR, UROGASTRONE) » CRANIOFRONTONASAL

HYPOMAGNESEMIA, DYSOSTOSIS
RENAL, TYPE 4 1610
» HYPOMAGNESEMIA, RENAL, NORMOCALCIURIC
Molecular Tests EGR2 (EARLY GROWTH RESPONSE 2) CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F, CMT4F 610
» DEJERINE-SOTTAS HYPERTROPHIC NEUROPATHY

Molecular Tests EGR2 (EARLY GROWTH RESPONSE 2) CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4E, CMT4E 610
Molecular Tests EGR2 (EARLY GROWTH RESPONSE 2) CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 1D, CMT1D 610
Molecular Tests EHMT1 (EUCHROMATIC HISTONE KLEEFSTRA SYNDROME 2690

METHYLTRANSFERASE 1; EUHMTASE1) » CHROMOSOME 9q34.3 DELETION SYNDROME
Molecular Tests EIF2AK3 (EUKARYOTIC TRANSLATION INITIATION EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS 1055
FACTOR 2-ALPHA KINASE 3) » MED-IDDM SYNDROME
» IDDM-MED SYNDROME
» WOLCOTT-RALLISON SYNDROME
Molecular Tests EIF2B1 (EUKARYOTIC TRANSLATION INITIATION LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1160
FACTOR 2B, SUBUNIT 1) » CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION
» CREE LEUKOENCEPHALOPATHY
» OVARIOLEUKODYSTROPHY
Molecular Tests ELA2 (ELASTASE 2) CYCLIC HEMATOPOIESIS 1160
Molecular Tests ELA2 (ELASTASE 2) » CYCLIC NEUTROPENIA

NEUTROPENIA, SEVERE CONGENITAL, SCN 1160
» CONGENITAL NEUTROPENIA
» INFANTILE AGRANULOCYTOSIS
Molecular Tests ELN (ELASTIN) CUTIS LAXA (AUTOSOMAL DOMINANT) 1290
Molecular Tests ELN (ELASTIN) CUTIS LAXA (AUTOSOMAL DOMINANT) 710
Molecular Tests ELN (ELASTIN) SUPRAVALVAR AORTIC STENOSIS, EISENBERG TYPE 1290
Molecular Tests ELN (ELASTIN) SUPRAVALVAR AORTIC STENOSIS, EISENBERG TYPE 710
Molecular Tests ELOVL4 (ELONGATION OF VERY LONG CHAIN FATTY STARGARDT DISEASE, TYPE 3 840
ACIDS-LIKE 4) » MACULAR DYSTROPHY WITH FLECKS, TYPE 3
Molecular Tests EMERIN (EMD) EMERY-DREYFUSS MUSCULAR DYSTROPHY (X-LINKED), EDMD 890
» MUSCULAR DYSTROPHY, EMERY-DREYFUSS MUSCULAR DYSTROPHY (X-LINKED),

Molecular Tests EMX2 (EMPTY SPIRACLES, DROSOPHILA, 2, HOMOLOG SCHIZENCEPHALY 910
OF)
Molecular Tests ENG (ENDOGLIN) TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER, 1410
TYPE 1
» ORW DISEASE
Molecular Tests ENG (ENDOGLIN) TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER, 1040
TYPE 1
» ORW DISEASE
Molecular Tests ENG and ALK1 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER 2610
» ORW DISEASE
Molecular Tests ENG and ALK1 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER 1130
» ORW DISEASE
Molecular Tests ENPP1 (ECTONUCLEOTIDE PYROPHOSPHATASE / ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY 1585
PHOSPHODIESTERASE 1;PHOSPHODIESTERASE I / » CORONARY SCLEROSIS, MEDIAL, OF INFANCY
NUCLEOTIDE PYROPHOSPHATASE 1; PDNP1; PLASMA
CELL MEMBRANE GLYCOPROTEIN PC-1; PC1;
NUCLEOTIDE PYROPHOSPHATASE)
Molecular Tests ENPP1 (ECTONUCLEOTIDE PYROPHOSPHATASE / HYPOPHOSPHATEMIC RICKETS (AUTOSOMAL RECESSIVE), TYPE 2 1585
PHOSPHODIESTERASE 1;PHOSPHODIESTERASE I /
NUCLEOTIDE PYROPHOSPHATASE 1; PDNP1; PLASMA
CELL MEMBRANE GLYCOPROTEIN PC-1; PC1;
NUCLEOTIDE PYROPHOSPHATASE)
Molecular Tests EP300 (E1A-BINDING PROTEIN, 300-KD) RUBINSTEIN-TAYBI SYNDROME 1260

RETARDATION
Molecular Tests EPM2A (LAFORIN) MYOCLONIC EPILEPSY OF LAFORA 1230

» LAFORA DISEASE
» EPILEPSY, PROGRESSIVE MYOCLONIC TYPE 2
Molecular Tests ERCC4 (EXCISION-REPAIR, COMPLEMENTING XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F, XPF 1310
DEFECTIVE, IN CHINESE HAMSTER, 4; XPF) » XERODERMA PIGMENTOSUM, TYPE 6, XP6
Molecular Tests ERCC4 (EXCISION-REPAIR, COMPLEMENTING XFE PROGEROID SYNDROME 1310
DEFECTIVE, IN CHINESE HAMSTER, 4; XPF) » XPF-ERCC1 PROGEROID SYNDROME
Molecular Tests ERCC5 (EXCISION-REPAIR, COMPLEMENTING XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G, XPG 1410
DEFECTIVE, IN CHINESE HAMSTER, 5; ERCM2, XPG, » XERODERMA PIGMENTOSUM, TYPE 7, XP7
XPGC, UVDR) » XERODERMA PIGMENTOSUM, TYPE G/COCKAYNE SYNDROME, INCLUDED
» CEREBROOCULOFACIOSKELETAL SYNDROME, TYPE 3, COFS3
Molecular Tests ERCC6(EXCISION-REPAIR CROSS-COMPLEMENTING, COCKAYNE SYNDROME, TYPE 2 1560

GROUP 6; CSB)
Molecular Tests ERCC8 (EXCISION-REPAIR CROSS-COMPLEMENTING, » COCKAYNE
COCKAYNE SYNDROME,TYPE
SYNDROME, TYPE1B 1160
GROUP 8; CSA)
Molecular Tests ESCO2 (ESTABLISHMENT OF COHESION 1, S. » COCKAYNE
ROBERTS SYNDROME, TYPE A
SYNDROME 1850
CEREVISIAE, HOMOLOG OF, 2)
Molecular Tests ESCO2 (ESTABLISHMENT OF COHESION 1, S. SC PHOCOMELIA SYNDROME 1850
CEREVISIAE, HOMOLOG OF, 2) » SC PSEUDOTHALIDOMIDE SYNDROME
Molecular Tests ETFA (ELECTRON TRANSFER FLAVOPROTEIN, ALPHA MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY, MADD 1200
POLYPEPTIDE) » GLUTARIC ACIDURIA, TYPE 2
» ETHYLMALONIC-ADIPICACIDURIA
» ETFA DEFICIENCY
Molecular Tests ETFB (ELECTRON TRANSFER FLAVOPROTEIN, BETA MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY, MADD 910
POLYPEPTIDE) » GLUTARIC ACIDURIA, TYPE 2
» ETHYLMALONIC-ADIPICACIDURIA
» ETFA DEFICIENCY
Molecular Tests ETFDH (ELECTRON TRANSFER FLAVOPROTEIN MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY, MADD 1320
DEHYDROGENASE; ELECTRON TRANSFER » GLUTARIC ACIDURIA, TYPE 2
FLAVOPROTEIN:UBIQUINONE OXIDOREDUCTASE) » ETHYLMALONIC-ADIPICACIDURIA
» ETFA DEFICIENCY
Molecular Tests ETHE1 ENCEPHALOPATHY, ETHYLMALONIC 1130
Molecular Tests EVC ELLIS-VAN CREVELD SYNDROME 1590
Molecular Tests EVC2 ELLIS-VAN CREVELD SYNDROME 2020
Molecular Tests EXT1 (EXOSTOSIN 1) MULTIPLE EXOSTOSES, TYPE 1, EXT1, HME 1210
Molecular Tests EXT2 (EXOSTOSIN 2) MULTIPLE EXOSTOSES, TYPE 2, EXT2, HME 1210
Molecular Tests EYA1 BRANCHIO-OTO-RENAL SYNDROME, TYPE1, BOR1 910
Molecular Tests EYS (EYES SHUT, DROSOPHILA, HOMOLOG OF; RETINITIS PIGMENTOSA, TYPE 25, RP25 1410
SPACEMAKER; SPAM)
Molecular Tests F11 (FACTOR 11, COAGULATION FACTOR 11) PTA DEFICIENCY 630
» COAGULATION FACTOR 11 DEFICIENCY

Molecular Tests F2 (FACTOR 2; COAGULATION FACTOR 2; THROMBIN; HYPOPROTHROMBINEMIA 1560
PROTHROMBIN) » DYSPROTHROMBINEMIA
» HYPERPROTHROMBINEMIA
Molecular Tests F5 (COAGULATION FACTOR 5; FACTOR 5 LEIDEN; APC FACTOR V DEFICIENCY 1660
COFACTOR) » OWREN PARAHEMOPHILIA
» LABILE FACTOR DEFICIENCY
Molecular Tests F7 (FACTOR 7, COAGULATION FACTOR 7) FACTOR VII DEFICIENCY 1560
Molecular Tests F8 (FACTOR 8) » HYPOPROCONVERTINEMIA

HAEMOPHILIA A 1020
Molecular Tests F8 (FACTOR 8) HAEMOPHILIA A 650
Molecular Tests F8 (FACTOR 8) HAEMOPHILIA A 650
Molecular Tests F9 (FACTOR 9) HAEMOPHILIA B 1020
Molecular Tests FACL4 (FATTY ACID COA LIGASE, LONG CHAIN 4) MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 63, MRX63 1160
Molecular Tests FACL4 (FATTY ACID COA LIGASE, LONG CHAIN 4) MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 68, MRX68 1160
Molecular Tests FAH (FUMARYLACETOACETATE HYDROLASE, TYROSINEMIA, TYPE 1 1290

FUMARYLACETOACETASE)
» HEPATORENAL TYROSINEMIA
» FUMARYLACETOACETASE DEFICIENCY
Molecular Tests FAH (FUMARYLACETOACETATE HYDROLASE, TYROSINEMIA, TYPE 1 1020
FUMARYLACETOACETASE)
» HEPATORENAL TYROSINEMIA
» FUMARYLACETOACETASE DEFICIENCY
Molecular Tests FAM126A (FAMILY WITH SEQUENCE SIMILARITY 126, LEUKODYSTROPHY, HYPOMYELINATING, TYPE 5 1670
MEMBER A; DOWNREGULATED BY CTNNB1, PROTEIN » HYPOMYELINATION AND CONGENITAL CATARACT
A; DRCTNNB1A; HYCCIN)
Molecular Tests FAM161A (FAMILY WITH SEQUENCE SIMILARITY 161, RETINITIS PIGMENTOSA, TYPE 28, RP28 890
MEMBER A)
Molecular Tests FAM58A (FAMILY WITH SEQUENCE SIMILARITY 58, TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL 1560
MEMBER A) MALFORMATIONS
» STAR SYNDROME
» SYNDACTYLY WITH RENAL AND ANOGENITAL MALFORMATIONS
Molecular Tests FAM58A (FAMILY WITH SEQUENCE SIMILARITY 58, TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL 910
MEMBER A) MALFORMATIONS
» STAR SYNDROME
» SYNDACTYLY WITH RENAL AND ANOGENITAL MALFORMATIONS
Molecular Tests FANCA FANCONI ANEMIA 5310

» FANCONI PANCYTOPENIA
Molecular Tests FANCA FANCONI ANEMIA 1310
» FANCONI PANCYTOPENIA
Molecular Tests FANCC FANCONI ANEMIA, COMPLEMENTATION GROUP C 1500
Molecular Tests FANCC » FANCONI

FANCONI PANCYTOPENIA,
ANEMIA, TYPE 3
COMPLEMENTATION GROUP C 540
Molecular Tests FANCG (X-RAY REPAIR, COMPLEMENTING DEFECTIVE, » FANCONI

FANCONI PANCYTOPENIA,
ANEMIA, TYPE 3
COMPLEMENTATION GROUP G 1500
IN CHINESE HAMSTER, 9; XRCC9)
Molecular Tests FASTKD2 (FAST KINASE DOMAIN-CONTAINING CYTOCHROME c OXIDASE DEFICIENCY 1610
PROTEIN 2) » COX DEFICIENCY
Molecular Tests FBLN4 (FIBULIN 4, EGF-CONTAINING FIBULIN-LIKE CUTIS LAXA (AUTOSOMAL RECESSIVE) 910
EXTRACELLULAR MATRIX PROTEIN 2, EFEMP2)
Molecular Tests FBLN5 (FIBULIN 5) CUTIS LAXA (AUTOSOMAL DOMINANT) 910
Molecular Tests FBLN5 (FIBULIN 5) CUTIS LAXA (AUTOSOMAL RECESSIVE) 910
Molecular Tests FBN1 (FIBRILLIN 1) FAMILIAL AORTIC ANEURYSM 1260
Molecular Tests FBN1 (FIBRILLIN 1) FAMILIAL AORTIC ANEURYSM 710
Molecular Tests FBN1 (FIBRILLIN 1) ECTOPIA LENTIS 1260
Molecular Tests FBN1 (FIBRILLIN 1) ECTOPIA LENTIS 710
Molecular Tests FBN1 (FIBRILLIN 1) MARFAN SYNDROME, TYPE 1, MFS1 1260
Molecular Tests FBN1 (FIBRILLIN 1) MARFAN SYNDROME, TYPE 1, MFS1 710
Molecular Tests FBN1 (FIBRILLIN 1) SHPHRINTZEN–GOLDBERG CRANIOSYNOSTOSIS SYNDROME 1260
Molecular Tests FBN1 (FIBRILLIN 1) SHPHRINTZEN–GOLDBERG CRANIOSYNOSTOSIS SYNDROME 710
Molecular Tests FBN1 (FIBRILLIN 1) MASS PHENOTYPE 1260
Molecular Tests FBN1 (FIBRILLIN 1) » MASS

MASS SYNDROME
PHENOTYPE 710
Molecular Tests FBN2 (FIBRILLIN 2) » MASS SYNDROME

CONTRACTURAL CONGENITAL ARACHNODACTYLY, CCA 1260
Molecular Tests FBP1 (FRUCTOSE-1,6-BISPHOSPHATASE 1) » BEALS SYNDROME

FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY 1010
Molecular Tests FBXO7 (F-BOX ONLY PROTEIN 7; FBX7; FBX) PARKINSON DISEASE, TYPE 15, PARK15 (AUTOSOMAL RECESSIVE) 960
Molecular Tests FECH (FERROCHELATASE) PROTOPORPHYRIA, ERYTHROPOIETIC 1210

» HEME SYNTHETASE DEFICIENCY
» FERROCHELATASE DEFICIENCY
Molecular Tests FERMT1 (FERMITIN FAMILY (DROSOPHILA) HOMOLOG KINDLER SYNDROME 1810
1; KIND1; KINDLIN 1)
» POIKILODERMA, HEREDITARY ACROKERATOTIC
» BULLOUS ACROKERATOTIC POIKILODERMA OF KINDLER AND WEARY

Molecular Tests FGA (FIBRINOGEN ALPHA) AMYLOIDOSIS, FAMILIAL VISCERAL 860
» OSTERTAG TYPE AMYLOIDOSIS
» GERMAN TYPE AMYLOIDOSIS
» AMYLOIDOSIS, FAMILIAL RENAL
Molecular Tests FGA (FIBRINOGEN ALPHA) » AMYLOIDOSIS,

VENOUS SYSTEMIC NONNEUROPATHIC
THROMBOEMBOLISM 860
Molecular Tests FGA (FIBRINOGEN ALPHA) AFIBRINOGENEMIA 860

» DYSFIBRINOGENEMIA
» HYPODYSFIBRINOGENEMIA, CONGENITAL
Molecular Tests FGB (FIBRINOGEN BETA) VENOUS THROMBOEMBOLISM 960
Molecular Tests FGB (FIBRINOGEN BETA) AFIBRINOGENEMIA 960

Molecular Tests FGD1 AARSKOG SYNDROME 1585
Molecular Tests FGF14 (FIBROBLAST GROWTH FACTOR 14) » FACIODIGITOGENITAL

SPINOCEREBELLAR SYNDROME
ATAXIA 27, SCA27 640
» CEREBELLAR ATAXIA (AUTOSOMAL DOMINANT), FGF14-RELATED
Molecular Tests FGF23 (FIBROBLAST GROWTH FACTOR 23) HYPOPHOSPHATEMIC RICKETS (AUTOSOMAL DOMINANT) 560
Molecular Tests FGF3 (FIBROBLAST GROWTH FACTOR 3; ONCOGENE » RICKETS, HYPOPHOSPHATEMIC

DEAFNESS, RICKETS
CONGENITAL, WITH INNER EAR(AUTOSOMAL DOMINANT)
AGENESIS, MICROTIA, AND 1410
INT2; INT2; V-INT2 MURINE MAMMARY TUMOR VIRUS MICRODONTIA
INTEGRATION SITE ONCOGENE HOMOLOG) » DEAFNESS, CONGENITAL, WITH LABYRINTHINE APLASIA, MICROTIA, AND
MICRODONTIA
» DEAFNESS WITH LAMM
Molecular Tests FGFR1 PFEIFFER SYNDROME 820
Molecular Tests FGFR1 » CRANIOSYNOSTOSIS,

JACKSON-WEISS PFEIFFER SYNDROME
SYNDROME 820

KALLMANN SYNDROMEJACKSON-WEISS
TYPE 2, KAL2 SYNDROME 1700
Molecular Tests FGFR2 » HYPOGONADOTROPIC

DIFFERENT DISEASES HYPOGONADISM AND ANOSMIA, TYPE 2 1700
Molecular Tests FGFR2 APERT SYNDROME 610

PFEIFFER SYNDROME APERT SYNDROME 820

JACKSON-WEISS PFEIFFER SYNDROME
SYNDROME 820

CROUZON SYNDROME JACKSON-WEISS SYNDROME 820
» CRANIOSYNOSTOSIS, CROUZON SYNDROME
Molecular Tests FGFR2 BEARE-STEVENSON CUTIS GYRATA 820

DIFFERENT DISEASES BEARE-STEVENSON CUTIS GYRATA 1410
Molecular Tests FGFR3 SADDAN DYSPLASIA 820

CROUZON SADDANWITH
CRANIOSYNOSTOSIS DYSPLASIA
ACANTHOSIS NIGRICANS 820
» CROUZONO DERMO SKELETAL SYNDROME
Molecular Tests FGFR3 ACHONDROPLASIA 610
Molecular Tests FGFR3 SAETHRE-CHOTZEN SYNDROME 820
Molecular Tests FGFR3 » CRANIOSYNOSTOSIS, SAETHRE-CHOTZEN SYNDROME

HYPOCHONDROPLASIA 710
Molecular Tests FGFR3 HYPOCHONDROPLASIA 710
Molecular Tests FGFR3 THANATOPHORIC DYSPLASIA, TYPE 1 820
Molecular Tests FGFR3 THANATOPHORIC DYSPLASIA, TYPE 2 820
Molecular Tests FGFR3 NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS (MUENKE) 620
Molecular Tests FGG (FIBRINOGEN GAMMA) » CRANIOSYNOSTOSIS, NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS

AFIBRINOGENEMIA 1110
Molecular Tests FH (FUMARATE HYDRATASE, FUMARASE) MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, MCUL1 1420
Molecular Tests FH (FUMARATE HYDRATASE, FUMARASE) HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER, HLRCC 1420
Molecular Tests FH (FUMARATE HYDRATASE, FUMARASE) FUMARASE DEFICIENCY 1420
Molecular Tests FHL1 (FOUR-AND-A-HALF LIM DOMAINS 1) » FUMARIC ACIDURIAMYOPATHY (X-LINKED DOMINANT)
SCAPULOPERONEAL 735
Molecular Tests FHL1 (FOUR-AND-A-HALF LIM DOMAINS 1) MYOPATHY, WITH POSTURAL MUSCLE ATROPHY (X-LINKED) 735
» EMERY-DREYFUSS MUSCULAR DYSTROPHY, TYPE 6 (X-LINKED)
Molecular Tests FHL1 (FOUR-AND-A-HALF LIM DOMAINS 1) MYOPATHY, REDUCING BODY, EARLY-ONSET, SEVERE (X-LINKED) 735
Molecular Tests FHL1 (FOUR-AND-A-HALF LIM DOMAINS 1) MYOPATHY, REDUCING BODY, CHILDHOOD-ONSET (X-LINKED) 735
Molecular Tests FKBP10 (FK506-BINDING PROTEIN 10; FKBP65) OSTEOGENESIS IMPERFECTA TYPE 6, OI6 860
» OSTEOGENESIS IMPERFECTA, TYPE VI, WITH OR WITHOUT JOINT CONTRACTURES
Molecular Tests FKRP (FUKUTIN-RELATED PROTEIN) MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1C, MDC1C 1030
Molecular Tests FKRP (FUKUTIN-RELATED PROTEIN) MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I, LGMD2I 1030
Molecular Tests FKTN (FUKUTIN; FCMD) WALKER-WARBURG SYNDROME 1200

» HYDROCEPHALUS, AGYRIA, AND RETINAL DYSPLASIA
» HARD SYNDROME
» PAGON SYNDROME
Molecular Tests FKTN (FUKUTIN; FCMD) FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY 1200
» MUSCULAR DYSTROPHY, CONGENITAL PROGRESSIVE, WITH MENTAL
RETARDATION
» MICROPOLYGYRIA WITH MUSCULAR DYSTROPHY
» CEREBROMUSCULAR DYSTROPHY, FUKUYAMA TYPE
Molecular Tests FKTN (FUKUTIN; FCMD) MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M, LGMD2M 1200
Molecular Tests FKTN (FUKUTIN; FCMD) CARDIOMYOPATHY, DILATED, TYPE 1X 1200
Molecular Tests FLCN (FOLLICULIN, FLCL) BIRT-HOGG-DUBE SYNDROME, BHD 1630
Molecular Tests FLCN (FOLLICULIN, FLCL) » FIBROFOLLICULOMAS

PNEUMOTHORAX, WITH
PRIMARY TRICHODISCOMAS AND ACROCHORDONS
SPONTANEOUS 1630
Molecular Tests FLG (FILAGGRIN, PROFILAGGRIN) ATOPIC DERMATITIS 1110
Molecular Tests FLG (FILAGGRIN, PROFILAGGRIN) ASTHMA 1110
Molecular Tests FLG (FILAGGRIN, PROFILAGGRIN) ICHTHYOSIS VULGARIS 1110

» ICHTHYOSIS SIMPLEX
Molecular Tests FLNA (FILAMIN A) HETEROTOPIA, PERIVENTRICULAR (X-LINKED DOMINANT) 1410
» PERIVENTRICULAR NODULAR HETEROTOPIA 1
» NODULAR HETEROTOPIA
Molecular Tests FLNA (FILAMIN A) OTOPALATODIGITAL SYNDROME, TYPE 2, OPD2 1510
» CRANIOORODIGITAL SYNDROME
Molecular Tests FLNB (FILAMIN B) ATELOSTEOGENESIS, TYPE 1 2210
» GIANT CELL CHONDRODYSPLASIA

Molecular Tests FLNB (FILAMIN B) ATELOSTEOGENESIS, TYPE 3 2210
Molecular Tests FLNB (FILAMIN B) BOOMERANG DYSPLASIA 2210
Molecular Tests FLNB (FILAMIN B) LARSEN SYNDROME (AUTOSOMAL DOMINANT) 2210
Molecular Tests FLNB (FILAMIN B) SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 2210
Molecular Tests FLT4 (FMS-LIKE TYROSINE KINASE 4, VASCULAR » SYNSPONDYLISM,

LYMPHEDEMA, CONGENITAL
HEREDITARY, TYPE 1 1152
ENDOTHELIAL GROWTH FACTOR RECEPTOR 3, » NONNE-MILROY LYMPHEDEMA
VEGFR3) » MILROY DISEASE
» PRIMARY CONGENITAL LYMPHEDEMA
Molecular Tests FLVCR2 (FELINE LEUKEMIA VIRUS SUBGROUP C PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY 1010
RECEPTOR 2; CALCIUM CHELATE TRANSPORTER; SYNDROME
FLVCR-LIKE ON CHROMOSOME 14q) » ENCEPHALOCLASTIC PROLIFERATIVE VASCULOPATHY
Molecular Tests FMO3 (FLAVIN - CONTAINING MONOOXYGENASE 3) FISH-ODOR SYNDROME 1000
Molecular Tests FMR1 » TRIMETHYLAMINURIA

FRAGILE X SYNDROME, FRAXA 1360
Molecular Tests FMR1 FRAGILE X SYNDROME, FRAXA 710
Molecular Tests FMR2 FRAGILE E SYNDROME, FRAXE 510
Molecular Tests FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS 1020
HOMOLOG-LIKE 7, FKHL7 FORKHEAD-RELATED
ACTIVATOR 3, FREAC3)
Molecular Tests FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS 990
Molecular Tests FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, IRIDOGONIODYSGENESIS SYNDROME, TYPE 2, IRID2 1020
ACTIVATOR 3, FREAC3) » IRIS HYPOPLASIA WITH EARLY-ONSET GLAUCOMA (AUTOSOMAL DOMINANT),
IHGA
Molecular Tests FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, IRIDOGONIODYSGENESIS SYNDROME, TYPE 2, IRID2 990
ACTIVATOR 3, FREAC3) » IRIS HYPOPLASIA WITH EARLY-ONSET GLAUCOMA (AUTOSOMAL DOMINANT),
IHGA
Molecular Tests FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, RIEGER SYNDROME, TYPE 1, RIEG1 1020
Molecular Tests FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, RIEGER SYNDROME, TYPE 1, RIEG1 990
Molecular Tests FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, PETERS ANOMALY 1020
Molecular Tests FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, PETERS ANOMALY 990
Molecular Tests FOXC2 (FORKHEAD BOX C2) LYMPHEDEMA AND PTOSIS 630
Molecular Tests FOXC2 (FORKHEAD BOX C2) LYMPHEDEMA-DISTICHIASIS SYNDROME 630
Molecular Tests FOXC2 (FORKHEAD BOX C2) LYMPHEDEMA, HEREDITARY, TYPE 2 630
» MEIGE LYMPHEDEMA
Molecular Tests FOXE1 (FORKHEAD BOX E1, THYROID TRANSCRIPTION BAMFORTH-LAZARUS SYNDROME 1070
FACTOR 2, TTF2, TITF2) » HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
Molecular Tests FOXG1 (FORKHEAD BOX G1; BRAIN FACTOR 1) RETT SYNDROME, CONGENITAL VARIANT 800
Molecular Tests FOXL2 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, BPES 960
Molecular Tests FOXL2 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, BPES 860
Molecular Tests FOXP2 (FORKHEAD BOX P2; TRINUCLEOTIDE REPEAT- SPEECH-LANGUAGE DISORDER, TYPE 1 2010
CONTAINING GENE 10) » DEVELOPMENTAL VERBAL DYSPRAXIA
» SPEECH AND LANGUAGE DISORDER WITH OROFACIAL DYSPRAXIA
Molecular Tests FOXP3 (FORKHEAD BOX P3, SCURFIN) IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY (X- 1055
LINKED), IPEX
» X-LINKED AUTOIMMUNITY-ALLERGIC DYSREGULATION SYNDROME
» IDDM-SECRETORY DIARRHEA SYNDROME
» AUTOIMMUNITY-IMMUNODEFICIENCY SYNDROME
» DIARRHEA, POLYENDOCRINOPATHY, FATAL INFECTION SYNDROME
» ENTEROPATHY, AUTOIMMUNE, WITH HEMOLYTIC ANEMIA AND
POLYENDOCRINOPATHY
» POLYENDOCRINOPATHY, IMMUNE DYSFUNCTION, AND DIARRHEA
» DIABETES MELLITUS, CONGENITAL INSULIN-DEPENDENT, WITH FATAL
SECRETORY DIARRHEA
» IMMUNODEFICIENCY, POLYENDOCRINOPATHY, AND ENTEROPATHY
Molecular Tests FOXRED1 (FAD-DEPENDENT OXIDOREDUCTASE CYTOCHROME c OXIDASE DEFICIENCY 1370

DOMAIN-CONTAINING PROTEIN 1) » COX DEFICIENCY
Molecular Tests FOXRED1 (FAD-DEPENDENT OXIDOREDUCTASE LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY 1370
DOMAIN-CONTAINING PROTEIN 1)
Molecular Tests FRAXF (FRAGILE SITE F) FRAGILE F SYNDROME 440
Molecular Tests FRDA (FRATAXINE) FRIEDREICH ATAXIA, FRDA 760
Molecular Tests FRDA (FRATAXINE) FRIEDREICH ATAXIA, FRDA 510
Molecular Tests FREM2 (FRAS1-RELATED EXTRACELLULAR MATRIX FRASER SYNDROME 510

PROTEIN 2) » CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS
» CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME
Molecular Tests FSCN2 (FASCIN, SEA URCHIN, HOMOLOG OF, 2; FASCIN, RETINITIS PIGMENTOSA, TYPE 30, RP30 840
RETINAL; RFSN)
Molecular Tests FSHD FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, FSHD 1260
» LANDOUZY-DEJERINE MUSCULAR DYSTROPHY
» MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY,

FSHD
Molecular Tests FSHR (FOLLICLE-STIMULATING HORMONE RECEPTOR; OVARIAN DYSGENESIS TYPE 1, ODG1 1110
FSH RECEPTOR; OVARIAN HYPERSTIMULATION » GONADAL DYSGENESIS, XX TYPE
SYNDROME, MODERATOR OF SEVERITY OF) » OVARIAN DYSGENESIS, HYPERGONADOTROPIC (AUTOSOMAL RECESSIVE)
Molecular Tests FTCD (FORMIMINOTRANSFERASE CYCLODEAMINASE) FORMIMINOTRANSFERASE DEFICIENCY 1700

» GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
» FORMIMINOGLUTAMIC ACIDURIA
» FIGLU-URIA
Molecular Tests FTL (FERRITIN LIGHT CHAIN) HYPERFERRITINEMIA-CATARACT SYNDROME 960
Molecular Tests FTL (FERRITIN LIGHT CHAIN) HYPERFERRITINEMIA-CATARACT SYNDROME 610
Molecular Tests FTL (FERRITIN LIGHT CHAIN) BASAL GANGLIA DISEASE, ADULT-ONSET 960
Molecular Tests FTL (FERRITIN LIGHT CHAIN) » NEUROFERRITINOPATHY

BASAL GANGLIA DISEASE, ADULT-ONSET 610
Molecular Tests FTSJ1 (FTSJ HOMOLOG 1) » NEUROFERRITINOPATHY

MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 44, MRX44 1060
Molecular Tests FTSJ1 (FTSJ HOMOLOG 1) MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 9, MRX9 1060
Molecular Tests FUCA1 (ALPHA-L-FUCOSIDASE) FUCOSIDOSIS 1160
Molecular Tests FUS (FUSION, DERIVED FROM 12-16 TRANSLOCATION, » ALPHA-L-FUCOSIDASE

AMYOTROPHIC LATERALDEFICIENCY
SCLEROSIS, TYPE 6, ALS6 1310
MALIGNANT LIPOSARCOMA
Molecular Tests FXYD2 (FXYD DOMAIN-CONTAINING ION TRANSPORT HYPOMAGNESEMIA, RENAL, TYPE 2 635
REGULATOR 2, SODIUM-POTASSIUM-ATPase, GAMMA-1
POLYPEPTIDE)
Molecular Tests FY (DUFFY BLOOD GROUP SYSTEM) HEMOLYTIC DISEASE, NEWBORN 420
Molecular Tests FZD4 (FRIZZLED, DROSOPHILA, HOMOLOG OF, 4) EXUDATIVE VITREORETINOPATHY, TYPE 1 810
» CRISWICK-SCHEPENS SYNDROME
» RETINOPATHY OF PREMATURITY
Molecular Tests G6PC (GLUCOSE-6-PHOSPHATASE) GLYCOGEN STORAGE DISEASE, TYPE 1A 1010
» GSD TYPE 1A
» VON GIERKE SYNDROME
Molecular Tests G6PD (GLUCOSE-6-PHOSPHATE DEHYDROGENASE) G6PD DEFICIENCY 1000
Molecular Tests GAA (GLUCOSIDASE, ALPHA, ACID, ACID MALTASE) » GLUCOSE-6-PHOSPHATE

GLYCOGEN DEHYDROGENASE
STORAGE DISEASE, TYPE 2 DEFICIENCY 1360
» GSD TYPE 2
» ACID ALPHA-GLUCOSIDASE DEFICIENCY
» POMPE DISEASE
» GLYCOGENOSIS, GENERALIZED, CARDIAC FORM
» CARDIOMEGALIA GLYCOGENICA DIFFUSA
» ACID MALTASE DEFICIENCY
» ALPHA-1,4-GLUCOSIDASE DEFICIENCY
Molecular Tests GABRA1 (GAMMA-AMINOBUTYRIC ACID RECEPTOR, EPILEPSY, JUVENILE MYOCLONIC, JME 1310
ALPHA-1; GABA-A RECEPTOR, ALPHA-1 POLYPEPTIDE) » JANZ SYNDROME
Molecular Tests GABRA1 (GAMMA-AMINOBUTYRIC ACID RECEPTOR, EPILEPSY, CHILDHOOD ABSENCE, TYPE 4, ECA4 1310
ALPHA-1; GABA-A RECEPTOR, ALPHA-1 POLYPEPTIDE)
Molecular Tests GABRD (GAMMA-AMINOBUTYRIC ACID RECEPTOR, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, GEFS+ 1110
DELTA;GABA-A RECEPTOR, DELTA POLYPEPTIDE) » GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, GEFS+, TYPE 2
» FEBRILE SEIZURES ASSOCIATED WITH AFEBRILE SEIZURES
Molecular Tests GABRG2 (GAMMA-AMINOBUTYRIC ACID RECEPTOR, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, GEFS+ 1110
GAMMA-2) » GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, GEFS+, TYPE 2
Molecular Tests GABRG2 (GAMMA-AMINOBUTYRIC ACID RECEPTOR, EPILEPSY, CHILDHOOD ABSENCE, TYPE 2, ECA2 1110
GAMMA-2)
Molecular Tests GAD1 (GLUTAMATE DECARBOXYLASE 1) CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, TYPE 1 1410
Molecular Tests GALC (GALACTOSYL CERAMIDASE, KRABBE DISEASE 1100

GALACTOCEREBROSIDASE)
» GLOBOID CELL LEUKODYSTROPHY
» GALACTOSYLCERAMIDE BETA-GALACTOSIDASE DEFICIENCY

Molecular Tests GALE (UDP-GALACTOSE-4-EPIMERASE; GALACTOSE GALACTOSE EPIMERASE DEFICIENCY 1350
EPIMERASE) » GALE DEFICIENCY
» GALACTOSEMIA, TYPE 3
» UDP-GALACTOSE-4-EPIMERASE DEFICIENCY
Molecular Tests GALK1 (GALACTOKINASE 1) GALACTOKINASE DEFICIENCY 960
» GALK DEFICIENCY
» GALACTOSEMIA TYPE 2
Molecular Tests GALNS (GALACTOSAMINE-6-SULFATE SULFATASE; N- MUCOPOLYSACCHARIDOSIS, TYPE 4A, MPS4A 1510
ACETYLGALACTOSAMINE-SULFATE SULFATASE) » MORQUIO SYNDROME A
» GALACTOSAMINE-6-SULFATASE DEFICIENCY
Molecular Tests GALNS (GALACTOSAMINE-6-SULFATE SULFATASE; N- MUCOPOLYSACCHARIDOSIS, TYPE 4A, MPS4A 910
ACETYLGALACTOSAMINE-SULFATE SULFATASE) » MORQUIO SYNDROME A
» GALACTOSAMINE-6-SULFATASE DEFICIENCY
Molecular Tests GALNT3 (UDP-N-ACETYL-ALPHA-D- TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 1055
GALACTOSAMINE:POLYPEPTIDE N- » LIPOCALCINOGRANULOMATOSIS
ACETYLGALACTOSAMINYLTRANSFERASE 3; GalNAc » TEUTSCHLAENDER DISEASE, FAMILIAL
TRANSFERASE 3; POLYPEPTIDE N- » HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME
ACETYLGALACTOSAMINYLTRANSFERASE 3)
Molecular Tests GALT (GALACTOSE-1-PHOSPHATE GALACTOSEMIA TYPE 1 1550

URIDYLYLTRANSFERASE)
Molecular Tests GAMT (GUANIDINOACETATE METHYLTRANSFERASE) » GALACTOSE-1-PHOSPHATE
GUANIDINOACETATE URIDYLYLTRANSFERASE
METHYLTRANSFERASE DEFICIENCY
DEFICIENCY 1200
» GAMT DEFICIENCY
» CREATINE DEFICIENCY SYNDROME DUE TO GAMT DEFICIENCY
Molecular Tests GAN (GAN GENE, GIGAXONIN) GIANT AXONAL NEUROPATHY 1 1160
» NEUROPATHY, GIANT AXONAL (AUTOSOMAL RECESSIVE)
Molecular Tests GARS (GLYCYL T RNA SYNTHETASE ) SPINAL MUSCULAR ATROPHY, DISTAL, TYPE 5, DSMA5 1810
Molecular Tests GARS (GLYCYL T RNA SYNTHETASE ) CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D, CMT2D 1810
Molecular Tests GATA1 (GATA-BINDING PROTEIN 1; ERYTHROID DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA 1730
TRANSCRIPTION FACTOR 1, GLOBIN TRANSCRIPTION » MACROTHROMBOCYTOPENIA (X-LINKED)
FACTOR 1)
Molecular Tests GATA1 (GATA-BINDING PROTEIN 1; ERYTHROID THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED 1730
TRANSCRIPTION FACTOR 1, GLOBIN TRANSCRIPTION GLOBIN SYNTHESIS
FACTOR 1) » THROMBOCYTOPENIA WITH BETA-THALASSEMIA (X-LINKED)
Molecular Tests GATA3 (GATA-BINDING PROTEIN 3) BARAKAT SYNDROME 760
» HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE
» HDR SYNDROME
» NEPHROSIS, NERVE DEAFNESS, AND HYPOPARATHYROIDISM
Molecular Tests GATA4 (GATA-BINDING PROTEIN 4) ATRIAL SEPTAL DEFECT, TYPE 2 1560
Molecular Tests GATM (L-ARGININE:GLYCINE AMIDINOTRANSFERASE) ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY 1330

» CREATINE DEFICIENCY SYNDROME DUE TO AGAT DEFICIENCY
» AGAT DEFICIENCY
Molecular Tests GBA (GLUCOSIDASE, GLUCOCEREBROSIDASE) GAUCHER DISEASE, TYPE 1 1400
Molecular Tests GBE1 (GLYCOGEN BRANCHING ENZYME) GLYCOGEN STORAGE DISEASE, TYPE 4 1380
» GSD TYPE 4
» GLYCOGEN BRANCHING ENZYME DEFICIENCY
» GBE1 DEFICIENCY
» ANDERSEN DISEASE
» BRANCHER DEFICIENCY
Molecular Tests GBE1 (GLYCOGEN BRANCHING ENZYME) GLYCOGEN STORAGE DISEASE, TYPE 4 910
» GSD TYPE 4
» GLYCOGEN BRANCHING ENZYME DEFICIENCY
» GBE1 DEFICIENCY
» ANDERSEN DISEASE
» BRANCHER DEFICIENCY
Molecular Tests GCDH (GLUTARYL COA DEHYDROGENASE) GLUTARIC ACIDURIA, TYPE 1 1000
Molecular Tests GCH1 (GTP CYCLOHYDROLASE 1) DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION 900
» DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION
» DYSTONIA 5, DYT5
Molecular Tests GCH1 (GTP CYCLOHYDROLASE 1) MYOCLONIC DYSTONIA 900
» MYOCLONUS-DYSTONIA SYNDROME
» DYSTONIA, ALCOHOL-RESPONSIVE
Molecular Tests GCH1 (GTP CYCLOHYDROLASE 1) GTP CYCLOHYDROLASE 1 DEFICIENCY 900
» GCH DEFICIENCY
» HYPERPHENYLALANINEMIA WITH NEOPTERIN DEFICIENCY
Molecular Tests GCK (GLUCOKINASE) MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2, MODY2 960
Molecular Tests GCK (GLUCOKINASE) HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 3 960
Molecular Tests GCM2 (GLIAL CELLS MISSING, DROSOPHILA, HYPOPARATHYROIDISM, FAMILIAL ISOLATED 990
HOMOLOG OF, 2; GCMB) » HYPOPARATHYROIDISM (AUTOSOMAL DOMINANT)
Molecular Tests GCS1 (GLUCOSIDASE 1) CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2B, CDG2B 1120
» GLUCOSIDASE 1 DEFICIENCY
Molecular Tests GCSH (GLYCINE CLEAVAGE SYSTEM H PROTEIN) NONKETOTIC HYPERGLYCINEMIA 780
» GLYCINE ENCEPHALOPATHY
Molecular Tests GDAP1 (GANGLIOSIDE-INDUCED DIFFERENTIATION- CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4A, CMT4A 1110
ASSOCIATED PROTEIN 1) (AUTOSOMAL RECESSIVE)
Molecular Tests GDAP1 (GANGLIOSIDE-INDUCED DIFFERENTIATION- CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS 1110
ASSOCIATED PROTEIN 1) (AUTOSOMAL RECESSIVE)
Molecular Tests GDAP1 (GANGLIOSIDE-INDUCED DIFFERENTIATION- CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K, CMT2K 1110
ASSOCIATED PROTEIN 1)
Molecular Tests GDAP1 (GANGLIOSIDE-INDUCED DIFFERENTIATION- CHARCOT-MARIE-TOOTH DISEASE, INTERMEDIATE A, CMTRIA (AUTOSOMAL 1110
ASSOCIATED PROTEIN 1) RECESSIVE)
Molecular Tests GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, BRACHYDACTYLY, TYPE C 1210
CDMP1, LAP4)
Molecular Tests GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, » BRACHYDACTYLY, HAWS
CHONDRODYSPLASIA, TYPE
GREBE TYPE 1210
CDMP1, LAP4)
» ACHONDROGENESIS, BRAZILIAN TYPE
Molecular Tests GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE 1210
CDMP1, LAP4)
Molecular Tests GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY 1210
CDMP1, LAP4)
Molecular Tests GFAP (GLIAL FIBRILLARY ACIDIC PROTEIN) » DU PAN SYNDROME
ALEXANDER DISEASE 960
Molecular Tests GGCX VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 860
Molecular Tests GH1 (GROWTH HORMONE 1, GH) PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY 710
(AUTOSOMAL DOMINANT)
» GROWTH HORMONE DEFICIENCY, ISOLATED (AUTOSOMAL DOMINANT)
» ISOLATED GROWTH HORMONE DEFICIENCY, TYPE 2
Molecular Tests GH1 (GROWTH HORMONE 1, GH) PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY 610
(AUTOSOMAL DOMINANT)
» GROWTH HORMONE DEFICIENCY, ISOLATED (AUTOSOMAL DOMINANT)
» ISOLATED GROWTH HORMONE DEFICIENCY, TYPE 2
Molecular Tests GH1 (GROWTH HORMONE 1, GH) PITUITARY DWARFISM 1 710

» PRIMORDIAL DWARFISM
» SEXUAL ATELEIOTIC DWARFISM
» GROWTH HORMONE DEFICIENCY, ISOLATED
» AUTOSOMAL RECESSIVE ISOLATED GROWTH HORMONE DEFICIENCY, TYPE 1A /
1B
» ILLIG-TYPE GROWTH HORMONE DEFICIENCY

» PRIMORDIAL DWARFISM
» SEXUAL ATELEIOTIC DWARFISM
» GROWTH HORMONE DEFICIENCY, ISOLATED
» AUTOSOMAL RECESSIVE ISOLATED GROWTH HORMONE DEFICIENCY, TYPE 1A /
1B
» ILLIG-TYPE GROWTH HORMONE DEFICIENCY

» PITUITARY DWARFISM WITH NORMAL IMMUNOREACTIVE GROWTH HORMONE
AND LOW SOMATOMEDIN
» BIODEFECTIVE GROWTH HORMONE
» KOWARSKI SYNDROME

» PITUITARY DWARFISM WITH NORMAL IMMUNOREACTIVE GROWTH HORMONE
AND LOW SOMATOMEDIN
» BIODEFECTIVE GROWTH HORMONE
» KOWARSKI SYNDROME
Molecular Tests GH1 (GROWTH HORMONE 1, GH) SHORT STATURE, IDIOPATHIC (AUTOSOMAL) 710
Molecular Tests GH1 (GROWTH HORMONE 1, GH) SHORT STATURE, IDIOPATHIC (AUTOSOMAL) 610
Molecular Tests GHR (GROWTH HORMONE RECEPTOR, GROWTH PITUITARY DWARFISM 2 1540
HORMONE-BINDING PROTEIN, GHBP) » GROWTH HORMONE INSENSITIVITY SYNDROME
» LARON SYNDROME
» GROWTH HORMONE RECEPTOR DEFICIENCY
Molecular Tests GHR (GROWTH HORMONE RECEPTOR, GROWTH SHORT STATURE, IDIOPATHIC (AUTOSOMAL) 1540
HORMONE-BINDING PROTEIN, GHBP)
Molecular Tests GJA1 (GAP JUNCTION PROTEIN, ALPHA-1, CONNEXIN OCULODENTODIGITAL DYSPLASIA 760
43, CX43)
Molecular Tests GJA1 (GAP JUNCTION PROTEIN, ALPHA-1, CONNEXIN » OCULODENTOOSSEOUS
SYNDACTYLY, TYPE 3 DYSPLASIA 760
43, CX43)
Molecular Tests GJA1 (GAP JUNCTION PROTEIN, ALPHA-1, CONNEXIN » SYNDACTYLYLEFT
HYPOPLASTIC OF FINGERS 4 AND 5
HEART SYNDROME 760
43, CX43)
Molecular Tests GJB1 (CONNEXIN 32, CX32) CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY (X-LINKED), CMTX 510
» HEREDITARY MOTOR AND SENSORY NEUROPATHY (X-LINKED)
Molecular Tests GJB1 (CONNEXIN 32, CX32) CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY (X-LINKED), CMTX 610
» HEREDITARY MOTOR AND SENSORY NEUROPATHY (X-LINKED)

Molecular Tests GJB2 (CONNEXIN 26, CX26) VOHWINKEL SYNDROME 510
Molecular Tests GJB2 (CONNEXIN 26, CX26) KERATITIS-ICHTHYOSIS-DEAFNESS 510
Molecular Tests GJB2 (CONNEXIN 26, CX26) PALMOPLANTAR KERATODERMA WITH DEAFNESS 510
Molecular Tests GJB2 (CONNEXIN 26, CX26) » HYPERKERATOSIS,

DEAFNESS, DFNB1 PALMOPLANTAR KERATODERMA WITH DEAFNESS 510
Molecular Tests GJB2 (CONNEXIN 26, CX26) » DEAFNESS,DFNA3

DEAFNESS, (AUTOSOMAL RECESSIVE), NEUROSENSORY 1 510

Molecular Tests GJB2, GJB3, GJB6, POU3F4 and WFS1 DEAFNESS 710
Molecular Tests GJB3 (CONNEXIN 31, CX31) ERYTHROKERATODERMIA VARIABILIS, EKV 1250
Molecular Tests GJB3 (CONNEXIN 31, CX31) DEAFNESS, DFNA2 1250

Molecular Tests GJB4 (CONNEXIN 30.3, CX30.3) ERYTHROKERATODERMIA VARIABILIS, EKV 1250
Molecular Tests GJB6 (CONNEXIN 30, CX30) CLOUSTON SYNDROME 510
» HYDROTIC ECTODERMAL DYSPLASIA, ED2

Molecular Tests GJB6 (CONNEXIN 30, CX30) DEAFNESS, DFNB1 510
Molecular Tests GJB6 (CONNEXIN 30, CX30) » DEAFNESS,DFNA3

DEAFNESS, (AUTOSOMAL RECESSIVE), NEUROSENSORY 1 510

Molecular Tests GJC2 (GAP JUNCTION PROTEIN, GAMMA-2; GJA12; PELIZAEUS-MERZBACHER-LIKE DISEASE, TYPE 1 (AUTOSOMAL RECESSIVE) 1150
CONNEXIN 47; CONNEXIN 46.6)
Molecular Tests GLA (GALACTOSIDASE) FABRY DISEASE 760
Molecular Tests GLB1 (GALACTOSIDASE, BETA-1; ELASTIN-BINDING GM1-GANGLIOSIDOSIS, TYPE 1 1160

PROTEIN, ELASTIN RECEPTOR 1)
Molecular Tests GLB1 (GALACTOSIDASE, BETA-1; ELASTIN-BINDING » GANGLIOSIDOSIS, GENERALIZED
GM1-GANGLIOSIDOSIS, TYPE 2 GM1, TYPE 1 1160
PROTEIN, ELASTIN RECEPTOR 1) » GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 2
Molecular Tests GLB1 (GALACTOSIDASE, BETA-1; ELASTIN-BINDING GM1-GANGLIOSIDOSIS, TYPE 3 1160
PROTEIN, ELASTIN RECEPTOR 1) » GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 3
Molecular Tests GLB1 (GALACTOSIDASE, BETA-1; ELASTIN-BINDING MUCOPOLYSACCHARIDOSIS, TYPE 4B, MPS4B 1160
PROTEIN, ELASTIN RECEPTOR 1) » MORQUIO SYNDROME B
Molecular Tests GLDC (GLYCINE DECARBOXYLASE, GLYCINE NONKETOTIC HYPERGLYCINEMIA 1860
CLEAVAGE SYSTEM P PROTEIN) » GLYCINE ENCEPHALOPATHY
Molecular Tests GLE1 (GLE1, S. CEREVISIAE, HOMOLOG-LIKE) LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE 1310
Molecular Tests GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) PALLISTER-HALL SYNDROME 2010
» HYPOTHALAMIC HAMARTOBLASTOMA, HYPOPITUITARISM, IMPERFORATE ANUS,

AND POSTAXIAL POLYDACTYLY
Molecular Tests GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) PALLISTER-HALL SYNDROME 610
» HYPOTHALAMIC HAMARTOBLASTOMA, HYPOPITUITARISM, IMPERFORATE ANUS,

AND POSTAXIAL POLYDACTYLY
Molecular Tests GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) POLYDACTYLY, POSTAXIAL, TYPE A1 2010
Molecular Tests GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) POLYDACTYLY, POSTAXIAL, TYPE A1 610
Molecular Tests GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) POLYDACTYLY, PREAXIAL 4 2010
» POLYSYNDACTYLY, UNCOMPLICATED CROSSED
Molecular Tests GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) POLYDACTYLY, PREAXIAL 4 610
» POLYSYNDACTYLY, UNCOMPLICATED CROSSED

Molecular Tests GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) GREIG CEPHALOPOLYSYNDACTYLY SYNDROME 2010
Molecular Tests GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) » POLYSYNDACTYLY

GREIG WITH PECULIAR
CEPHALOPOLYSYNDACTYLY SKULL SHAPE
SYNDROME 610
Molecular Tests GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) » POLYSYNDACTYLY

ACROCALLOSAL WITH PECULIAR SKULL SHAPE
SYNDROME 2010
Molecular Tests GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) » SCHINZEL ACROCALLOSAL

ACROCALLOSAL SYNDROME SYNDROME 610
Molecular Tests GLIS3 (GLIS FAMILY ZINC FINGER PROTEIN 3; GLI- » SCHINZEL
DIABETES ACROCALLOSAL
MELLITUS, SYNDROME
NEONATAL, WITH CONGENITAL HYPOTHYROIDISM 1500
SIMILAR PROTEIN 3; ZINC FINGER PROTEIN 515; » NDH SYNDROME
ZNF515)
Molecular Tests GLRA1 (GLYCINE RECEPTOR, ALPHA-1 SUBUNIT) HYPEREKPLEXIA 1260
» STARTLE DISEASE
» KOK DISEASE
Molecular Tests GLRB (GLYCINE RECEPTOR, BETA SUBUNIT) HYPEREKPLEXIA 960
» STARTLE DISEASE
» KOK DISEASE
Molecular Tests GLUD1 (GLUTAMATE DEHYDROGENASE 1) HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6 1110
» HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
» PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
HYPERPLASIA
Molecular Tests GLUD1 (GLUTAMATE DEHYDROGENASE 1) HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6 820
» HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
» PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
HYPERPLASIA
Molecular Tests GM2A (GM2-ACTIVATOR) TAY-SACHS DISEASE, AB VARIANT 610

» HEXOSAMINIDASE ACTIVATOR DEFICIENCY
» GM2-GANGLIOSIDOSIS, TYPE AB
» AB VARIANT GM2-GANGLIOSIDOSIS
Molecular Tests GNAS (GNAS1, ALPHA SUBUNIT OF Gs, ALPHA SUBUNIT PITUITARY TUMOR, SOMATOTROPHINOMA 1100
OF ADENYLATE CYCLASE STIMULATORY PROTEIN)
Molecular Tests GNAS (GNAS1, ALPHA SUBUNIT OF Gs, ALPHA SUBUNIT ALBRIGHT HEREDITARY OSTEODYSTROPHY 1100
» PSEUDOHYPOPARATHYROIDISM, TYPE 1A
» PSEUDOHYPOPARATHYROIDISM, TYPE 1C
Molecular Tests GNAS (GNAS1, ALPHA SUBUNIT OF Gs, ALPHA SUBUNIT OSSEOUS HETEROPLASIA, PROGRESSIVE 1100
» ECTOPIC OSSIFICATION, FAMILIAL
Molecular Tests GNAS (GNAS1, ALPHA SUBUNIT OF Gs, ALPHA SUBUNIT MCCUNE-ALBRIGHT SYNDROME 1100
» ALBRIGHT SYNDROME
Molecular Tests GNAS (GNAS1, ALPHA SUBUNIT OF Gs, ALPHA SUBUNIT MCCUNE-ALBRIGHT SYNDROME 560
» ALBRIGHT SYNDROME
Molecular Tests GNAS (GNAS1, ALPHA SUBUNIT OF Gs, ALPHA SUBUNIT PSEUDOHYPOPARATHYROIDISM, TYPE 1B 560
Molecular Tests GNAT1 (GUANINE NUCLEOTIDE-BINDING PROTEIN, NIGHT BLINDNESS, CONGENITAL STATIONARY (AUTOSOMAL DOMINANT), TYPE 3 840
ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE 1;G » NIGHT BLINDNESS, CONGENITAL STATIONARY, NOUGARET TYPE
PROTEIN, ALPHA-TRANSDUCING 1; TRANSDUCIN, ROD-
SPECIFIC, ALPHA POLYPEPTIDE)
Molecular Tests GNAT2 (GUANINE NUCLEOTIDE-BINDING PROTEIN, ACHROMATOPSIA, TYPE 4 990

ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE 2; G
PROTEIN, ALPHA-TRANSDUCING 2; TRANSDUCIN,
CONE-SPECIFIC, ALPHA POLYPEPTIDE)
Molecular Tests GNE (GLCNE, UDP-N-ACETYLGLUCOSAMINE 2- SIALURIA 1060

EPIMERASE/N-ACETYLMANNOSAMINE KINASE)
Molecular Tests GNE (GLCNE, UDP-N-ACETYLGLUCOSAMINE 2- INCLUSION BODY MYOPATHY 2 (AUTOSOMAL RECESSIVE), IBM2 1060
Molecular Tests GNE (GLCNE, UDP-N-ACETYLGLUCOSAMINE 2- NONAKA DISTAL MYOPATHY 1060
Molecular Tests GNPAT (GLYCERONEPHOSPHATE O- » MYOPATHY,CHONDRODYSPLASIA
RHIZOMELIC DISTAL, WITH RIMMED VACUOLES
PUNCTATA, TYPE 2, RCDP2 1410
ACYLTRANSFERASE; » DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY
DIHYDROXYACETONEPHOSPHATE » DHAPAT DEFICIENCY
ACYLTRANSFERASE; DHAPAT; » GLYCERONEPHOSPHATE O-ACYLTRANSFERASE DEFICIENCY
DIHYDROXYACETONEPHOSPHATE
ACYLTRANSFERASE; DHAPAT)
Molecular Tests GNPTAB (N-ACETYLGLUCOSAMINE-1- MUCOLIPIDOSIS, TYPE 2, ML2 2330

PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS) » I-CELL DISEASE
Molecular Tests GNPTAB (N-ACETYLGLUCOSAMINE-1- MUCOLIPIDOSIS, TYPE 3, ML3 2330

PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS) » PSEUDO-HURLER POLYDYSTROPHY
Molecular Tests GNPTG (N-ACETYLGLUCOSAMINE-1- MUCOLIPIDOSIS, TYPE 3C, ML3C 1110

PHOSPHOTRANSFERASE, GAMMA SUBUNIT; GNPTAG) » MUCOLIPIDOSIS, TYPE 3, IRANIAN VARIANT
» MUCOLIPIDOSIS, TYPE 3, GAMMA
Molecular Tests GNS (N-ACETYLGLUCOSAMINE-6-SULFATASE; MUCOPOLYSACCHARIDOSIS, TYPE 3D, MPS3D 1690
GLUCOSAMINE-6-SULFATASE) » SANFILIPPO SYNDROME D
» N-ACETYLGLUCOSAMINE-6-SULFATASE DEFICIENCY
Molecular Tests GORAB (GOLGIN, RAB6-INTERACTING; SCYL1-BINDING GERODERMA OSTEODYSPLASTICUM 910
PROTEIN 1; SCYLBP1; NTKL-BINDING PROTEIN 1; » WALT DISNEY DWARFISM
NTKLBP1) » GERODERMIA OSTEODYSPLASTICA
Molecular Tests GP1BA (GLYCOPROTEIN Ib, PLATELET, ALPHA PSEUDO-VON WILLEBRAND DISEASE 610
POLYPEPTIDE, GLYCOCALICIN) » VON WILLEBRAND DISEASE, PLATELET-TYPE
Molecular Tests GP1BA (GLYCOPROTEIN Ib, PLATELET, ALPHA BERNARD-SOULIER SYNDROME 610
POLYPEPTIDE, GLYCOCALICIN) » GIANT PLATELET SYNDROME
» VON WILLEBRAND FACTOR RECEPTOR DEFICIENCY
Molecular Tests GP1BB (GLYCOPROTEIN Ib, PLATELET, BETA » BERNARD-SOULIER SYNDROME 710
POLYPEPTIDE) » GIANT PLATELET SYNDROME
» PLATELET GLYCOPROTEIN Ib DEFICIENCY
» GLYCOPROTEIN Ib, PLATELET, DEFICIENCY OF
» MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE
Molecular Tests GP9 (GLYCOPROTEIN IX, PLATELET) BERNARD-SOULIER SYNDROME 510

» GIANT PLATELET SYNDROME
Molecular Tests GPC3 (GLYPICAN 3) SIMPSON-GOLABI-BEHMEL SYNDROME, SGBS 910
Molecular Tests GPC3 (GLYPICAN 3) SIMPSON-GOLABI-BEHMEL SYNDROME, SGBS 1290
Molecular Tests GPHN (GEPHYRIN) MOLYBDENUM COFACTOR DEFICIENCY 1160

» SULFITE OXIDASE, XANTHINE DEHYDROGENASE, AND ALDEHYDE OXIDASE,
COMBINED DEFICIENCY OF
Molecular Tests GPR143 (OA1) ALBINISM, OCULAR, TYPE 1, OA1 840
» NETTLESHIP-FALLS TYPE OCULAR ALBINISM
Molecular Tests GPR56 (G PROTEIN-COUPLED RECEPTOR 56, TM7XN1) POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 1850
» CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT
Molecular Tests GPR98 (G PROTEIN-COUPLED RECEPTOR 98; FEBRILE SEIZURES, FAMILIAL, TYPE4 1610
MONOGENIC AUDIOGENIC SEIZURE SUSCEPTIBILITY 1,
MOUSE, HOMOLOG OF; MASS1; VERY LARGE G
PROTEIN-COUPLED RECEPTOR 1; VLGR1)
Molecular Tests GPR98 (G PROTEIN-COUPLED RECEPTOR 98; USHER SYNDROME, TYPE 2C, USH2C 1610
MONOGENIC AUDIOGENIC SEIZURE SUSCEPTIBILITY 1, » USHER SYNDROME, TYPE 2B
MOUSE, HOMOLOG OF; MASS1; VERY LARGE G
PROTEIN-COUPLED RECEPTOR 1; VLGR1)
Molecular Tests GRHPR (GLYOXYLATE REDUCTASE / HYPEROXALURIA, PRIMARY, TYPE 2 960

HYDROXYPYRUVATE REDUCTASE, GLXR)
» OXALOSIS 2
» GLYCERIC ACIDURIA
Molecular Tests GRHPR (GLYOXYLATE REDUCTASE / HYPEROXALURIA, PRIMARY, TYPE 2 510

HYDROXYPYRUVATE REDUCTASE, GLXR)
» OXALOSIS 2
» GLYCERIC ACIDURIA
Molecular Tests GRK1 (G PROTEIN-DEPENDENT RECEPTOR KINASE 1; OGUCHI DISEASE, TYPE 2 840
RHODOPSIN KINASE; RHOK) » NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 2
Molecular Tests GRM6 (GLUTAMATE RECEPTOR, METABOTROPIC, 6; NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B, CSNB1B 840
MGLUR6)
Molecular Tests GRN (GRANULIN, PROGRANULIN, FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE 1110
EPITHELIN) » DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION
Molecular Tests GRN (GRANULIN, PROGRANULIN, FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE 710
EPITHELIN) » DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION
Molecular Tests GUCA1A (GUANYLATE CYCLASE ACTIVATOR 1A; CONE DYSTROPHY, TYPE 3, COD3 790
GUANYLIN 1, RETINA; GUCA1)
Molecular Tests GUCA1B (GUANYLATE CYCLASE ACTIVATOR 1B; RETINITIS PIGMENTOSA, TYPE 48, RP48 790
GUCA1B; GUANYLIN 2, RETINA; GUCA2)
Molecular Tests GUCY2D (GUANYLATE CYCLASE 2D, MEMBRANE) LEBER CONGENITAL AMAUROSIS, TYPE 1, LCA1 1180
» RETINAL BLINDNESS, CONGENITAL
Molecular Tests GUCY2D (GUANYLATE CYCLASE 2D, MEMBRANE) CONE-ROD DYSTROPHY, TYPE 6, CORD6 1180
Molecular Tests GUSB (BETA-GLUCURONIDASE) MUCOPOLYSACCHARIDOSIS TYPE 7, MPS7 1410

» SLY SYNDROME
» BETA-GLUCURONIDASE DEFICIENCY
Molecular Tests GYS1 (GLYCOGEN SYNTHASE 1) GLYCOGEN STORAGE DISEASE, TYPE 0, MUSCLE 1960
» MUSCLE GLYCOGEN SYNTHASE DEFICIENCY
Molecular Tests GYS2 (GLYCOGEN SYNTHASE 2) GLYCOGEN STORAGE DISEASE, TYPE 0 1660
» GSD TYPE 0
» LIVER GLYCOGEN SYNTHASE DEFICIENCY
Molecular Tests HADH2 (HYDROXYACYL-CoA DEHYDROGENASE TYPE 2-ALPHA-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY 910
2, AMYLOID BETA-BINDING POLYPEPTIDE, ERAB, 2-
ALPHA-METHYL-3-HYDROXYBUTYRYL-CoA
DEHYDROGENASE)
Molecular Tests HADHA (HYDROXYACYL-CoA DEHYDROGENASE/3- NEUROPATHY-MYOPATHY, PROGRESSIVE, DUE TO TRIFUNCTIONAL PROTEIN 2090
KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, DEFICIENCY
ALPHA SUBUNIT, TRIFUNCTIONAL PROTEIN, ALPHA
SUBUNIT MITOCHONDRIAL TRIFUNCTIONAL PROTEIN,
ALPHA SUBUNIT, LONG-CHAIN HYDROXYACYL-CoA
DEHYDROGENASE, LCHAD)
Molecular Tests HADHA (HYDROXYACYL-CoA DEHYDROGENASE/3- NEUROPATHY-MYOPATHY, PROGRESSIVE, DUE TO TRIFUNCTIONAL PROTEIN 640
Molecular Tests HADHA (HYDROXYACYL-CoA DEHYDROGENASE/3- TRIFUNCTIONAL PROTEIN DEFICIENCY 2090

KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,
Molecular Tests HADHA (HYDROXYACYL-CoA DEHYDROGENASE/3- TRIFUNCTIONAL PROTEIN DEFICIENCY 640

Molecular Tests HADHA (HYDROXYACYL-CoA DEHYDROGENASE/3- LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY, LCHAD 2090
Molecular Tests HADHA (HYDROXYACYL-CoA DEHYDROGENASE/3- LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY, LCHAD 640
Molecular Tests HADHB (HYDROXYACYL-CoA DEHYDROGENASE/3- TRIFUNCTIONAL PROTEIN DEFICIENCY 1160

BETA SUBUNIT, TRIFUNCTIONAL PROTEIN, BETA
BETA SUBUNIT HYDROXYACYL-CoA
DEHYDROGENASE, HADH)
Molecular Tests HAMP (HEPCIDIN ANTIMICROBIAL PEPTIDE) » HEMOCHROMATOSIS, TYPE 2, HFE2 560
HEMOCHROMATOSIS, JUVENILE
» HEMOCHROMATOSIS DUE TO DEFECT IN HEMOJUVELIN
» HEMOCHROMATOSIS DUE TO DEFECT IN HEPCIDIN ANTIMICROBIAL PEPTIDE
Molecular Tests HAX1 (HCLS1-ASSOCIATED PROTEIN X1) NEUTROPENIA, SEVERE CONGENITAL, TYPE 3 (AUTOSOMAL RECESSIVE) 1250
» KOSTMANN DISEASE
» AGRANULOCYTOSIS, INFANTILE
Molecular Tests HBA 1 and HBA 2 (ALPHA GLOBIN) ALPHA HAEMOGLOBINOPATHIA 960
Molecular Tests HBB (BETA GLOBIN) » ALPHA

BETA THALASSEMIA
HAEMOGLOBINOPATHIA 650
Molecular Tests HBB (BETA GLOBIN) » BETA THALASSEMIA

SICKLE CELL ANEMIA 650
Molecular Tests HD (HUNTINGTIN) HUNTINGTON CHOREA 800
Molecular Tests HEPACAM (HEPATOCYTE CELL ADHESION MOLECULE; MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS, TYPE 1080
GLIAL CELL ADHESION MOLECULE; GLIALCAM; 2A
HEPATOCYTE AND GLIAL CELL ADHESION
MOLECULE)
Molecular Tests HEPACAM (HEPATOCYTE CELL ADHESION MOLECULE; MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS, TYPE 1080
GLIAL CELL ADHESION MOLECULE; GLIALCAM; 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION
HEPATOCYTE AND GLIAL CELL ADHESION
MOLECULE)
Molecular Tests HERG LONG QT SYNDROME 2, LQT2 1710
Molecular Tests HES7 (HAIRY/ENHANCER OF SPLIT, DROSOPHILA, » ROMANO-WARD SYNDROME

SPONDYLOCOSTAL DYSOSTOSIS, TYPE 4 (AUTOSOMAL RECESSIVE) 630
HOMOLOG OF, 7)
Molecular Tests HESX1 (HOMEOBOX GENE EXPRESSED IN ES CELLS) PITUITARY DWARFISM 3 750
» PANHYPOPITUITARISM
» ATELIOTIC DWARFISM WITH HYPOGONADISM

Molecular Tests HEXA (HEXOSAMINIDASE A) TAY-SACHS DISEASE 1210
» GANGLIOSIDOSIS, GENERALIZED GM2, TYPE 1

Molecular Tests HEXA (HEXOSAMINIDASE A) TAY-SACHS DISEASE 510
» GANGLIOSIDOSIS, GENERALIZED GM2, TYPE 1

Molecular Tests HEXB (HEXOSAMINIDASE B) SANDHOFF DISEASE 1210
» GM2-GANGLIOSIDOSIS, TYPE 2
» HEXOSAMINIDASES A AND B DEFICIENCY
Molecular Tests HFE HEMOCHROMATOSIS, TYPE 1, HFE1 960
Molecular Tests HFE HEMOCHROMATOSIS, TYPE 1, HFE1 540
Molecular Tests HGD (HOMOGENTISATE 1,2-DIOXYGENASE) ALKAPTONURIA 1110

» HOMOGENTISIC ACID OXIDASE DEFICIENCY
Molecular Tests HGSNAT (HEPARAN-ALPHA-GLUCOSAMINIDE N- MUCOPOLYSACCHARIDOSIS, TYPE 3C, MPS3C 1760
ACETYLTRANSFERASE; TRANSMEMBRANE PROTEIN » SANFILIPPO SYNDROME C
76; TMEM76) » ACETYL-CoA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY
Molecular Tests HGSNAT (HEPARAN-ALPHA-GLUCOSAMINIDE N- MUCOPOLYSACCHARIDOSIS, TYPE 3C, MPS3C 910

ACETYLTRANSFERASE; TRANSMEMBRANE PROTEIN » SANFILIPPO SYNDROME C
76; TMEM76) » ACETYL-CoA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY
Molecular Tests HJV (HEMOJUVELIN) HEMOCHROMATOSIS, TYPE 2, HFE2 1010

» HEMOCHROMATOSIS, JUVENILE
» HEMOCHROMATOSIS DUE TO DEFECT IN HEPCIDIN ANTIMICROBIAL PEPTIDE
Molecular Tests HLCS (HOLOCARBOXYLASE SYNTHETASE; HCS) HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 1200
» MULTIPLE CARBOXYLASE DEFICIENCY, EARLY ONSET
» HLCS DEFICIENCY
Molecular Tests HMBS (HYDROXYMETHYLBILANE SYNTHASE) PORPHYRIA, ACUTE INTERMITTENT 1190
» PORPHOBILINOGEN DEAMINASE DEFICIENCY
» PBGD DEFICIENCY
Molecular Tests HMGCL (HMG - COA SYNTHETASE) HMG-COA LYASE DEFICIENCY 1600
Molecular Tests HNF1A (TCF1) » HMG-COA

HEPATIC SYNTHETASE DEFICIENCY
ADENOMA 960
Molecular Tests HNF1A (TCF1) HEPATIC ADENOMA 610
Molecular Tests HNF1A (TCF1) MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3, MODY3 960
Molecular Tests HNF1A (TCF1) MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3, MODY3 610
Molecular Tests HNF1B (HNF2, TCF2) HYPOPLASTIC GLOMERULOCYSTIC KIDNEY DISEASE 910
Molecular Tests HNF1B (HNF2, TCF2) HYPOPLASTIC GLOMERULOCYSTIC KIDNEY DISEASE 610
Molecular Tests HNF1B (HNF2, TCF2) MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5, MODY5 910
Molecular Tests HNF1B (HNF2, TCF2) MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5, MODY5 610
Molecular Tests HNF4A MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1, MODY1 1055
Molecular Tests HNF4A MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1, MODY1 1480
Molecular Tests HOXA 13 GUTTMACHER SYNDROME 820
Molecular Tests HOXA 13 HAND-FOOT-UTERUS SYNDROME 820
Molecular Tests HOXA1 (HOMEOBOX A1; HOMEOBOX 1F; HOX1F) » HAND-FOOT-GENITAL

ATHABASKAN SYNDROME
BRAINSTEM DYSGENESIS SYNDROME 510
» BOSLEY-SALIH-ALORAINY SYNDROME
Molecular Tests HOXD 13 (HOMEOBOX D13) BRACHYDACTYLY TYPE D, BDD 820
Molecular Tests HOXD 13 (HOMEOBOX D13) BRACHYDACTYLY TYPE E, BDE 820
Molecular Tests HOXD 13 (HOMEOBOX D13) SYNDACTYLY, TYPE 2 820
Molecular Tests HPRP3 (PRECURSOR mRNA-PROCESSING FACTOR 3, S. » SYNPOLYDACTYLY

RETINITIS PIGMENTOSA, TYPE 18, RP18 1460
CEREVISIAE, HOMOLOG OF)
Molecular Tests HPRT1 (HYPOXANTHINE GUANINE PHOSPHORIBOSYL LESCH - NYHAN SYNDROME, LNS 1100
TRANSFERASE 1, HGPRT)
» HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY
» HPRT1 DEFICIENCY
Molecular Tests HPRT1 (HYPOXANTHINE GUANINE PHOSPHORIBOSYL GOUT, HPRT-RELATED 1100
TRANSFERASE 1, HGPRT)
Molecular Tests HPS PANEL » KELLEY-SEEGMILLERSYNDROME,
HERMANSKY-PUDLAK SYNDROME TYPE 1-8, HPS1-8 2940
Molecular Tests HPS1 HERMANSKY-PUDLAK SYNDROME, TYPE 1, HPS1 990
Molecular Tests HPS1 and HPS3 HERMANSKY-PUDLAK SYNDROME 880
Molecular Tests HPS5 (RUBY-EYE 2, MOUSE, HOMOLOG OF; RU2; HERMANSKY-PUDLAK SYNDROME, TYPE 5, HPS5 990
ALPHA-INTEGRIN-BINDING PROTEIN 63; AIBP63)
Molecular Tests HPS6 (RUBY-EYE, MOUSE, HOMOLOG OF; RU) HERMANSKY-PUDLAK SYNDROME, TYPE 6, HPS6 1080
Molecular Tests HR (HAIRLESS, MOUSE, HOMOLOG OF) ALOPECIA UNIVERSALIS CONGENITA 2110
» ATRICHIA, GENERALIZED
Molecular Tests HR (HAIRLESS, MOUSE, HOMOLOG OF) ATRICHIA WITH PAPULAR LESIONS 2110
» PAPULAR ATRICHIA
Molecular Tests HRAS (V-HA-RAS HARVEY RAT SARCOMA VIRAL COSTELLO SYNDROME 890
ONCOGENE HOMOLOG)
Molecular Tests HSD11B2 » FACIOCUTANEOSKELETAL
CORTISOL SYNDROME
11-BETA-KETOREDUCTASE DEFICIENCY 710
» APPARENT MINERALOCORTICOID EXCESS
» 11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE 2
Molecular Tests HSD17B3 (17-@BETA HYDROXYSTEROID 17-@BETA HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY 1620
DEHYDROGENASE 3, ESTRADIOL 17-BETA- » PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA
DEHYDROGENASE,EDH17B3) » POLYCYSTIC OVARIAN DISEASE DUE TO 17-KETOSTEROID REDUCTASE
DEFICIENCY
» 17-@KETOSTEROID REDUCTASE DEFICIENCY OF TESTIS
Molecular Tests HSD3B2 (3-@BETA-HYDROXYSTEROID ADRENAL HYPERPLASIA, TYPE 2 810

DEHYDROGENASE/DELTA-ISOMERASE, TYPE 2) » 3-@BETA-HYDROXYSTEROID DEHYDROGENASE, DEFICIENCY OF, TYPE 2
» 3-@BETA-HSD DEFICIENCY
Molecular Tests HSN2 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE 2, HSAN2 790
» ACROOSTEOLYSIS, NEUROGENIC
» MORVAN DISEASE
» NEUROPATHY, PROGRESSIVE SENSORY, OF CHILDREN
Molecular Tests HSPB8 (HEAT-SHOCK 22-KD PROTEIN 8) NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE 2A 860
» SPINAL MUSCULAR ATROPHY, DISTAL, ADULT (AUTOSOMAL DOMINANT), TYPE
2A
» CHARCOT-MARIE-TOOTH DISEASE, SPINAL, TYPE 2A
Molecular Tests HSPB8 (HEAT-SHOCK 22-KD PROTEIN 8) CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L, CMT2L 860
Molecular Tests HSPD1 (HEAT-SHOCK 60-KD PROTEIN 1, SPG13) SPASTIC PARAPLEGIA 13 (AUTOSOMAL DOMINANT) 1160
Molecular Tests HSPG2 (PERLECAN, HEPARAN SULFATE DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE 4710
PROTEOGLYCAN OF BASEMENT MEMBRANE) » ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, SILVERMAN-HANDMAKER
TYPE
Molecular Tests HSPG2 (PERLECAN, HEPARAN SULFATE SCHWARTZ-JAMPEL SYNDROME, TYPE 1 4710
PROTEOGLYCAN OF BASEMENT MEMBRANE) » SJA SYNDROME
» MYOTONIC MYOPATHY, DWARFISM, CHONDRODYSTROPHY, AND OCULAR AND
FACIAL ABNORMALITIES
» CHONDRODYSTROPHIC MYOTONIA
Molecular Tests HYAL1 (HYALURONOGLUCOSAMINIDASE 1; MUCOPOLYSACCHARIDOSIS TYPE 9, MPS9 910

HYALURONIDASE 1) » HYALURONIDASE DEFICIENCY
Molecular Tests ICHTHYIN (ICHYN) ICHTHYOSIS, CONGENITAL (AUTOSOMAL RECESSIVE), ICHTHYIN-RELATED 1380
Molecular Tests ICOS (INDUCIBLE T-CELL COSTIMULATOR; IMMUNODEFICIENCY, COMMON VARIABLE, TYPE 1 1460
ACTIVATION-INDUCIBLE LYMPHOCYTE » ANTIBODY DEFICIENCY DUE TO ICOS DEFECT
IMMUNOMEDIATORY MOLECULE; AILIM)
Molecular Tests ICR1 SILVER-RUSSELL SYNDROME 810
» RUSSELL-SILVER SYNDROME
Molecular Tests IDH3B (ISOCITRATE DEHYDROGENASE 3, BETA RETINITIS PIGMENTOSA, TYPE 46, RP46 840
SUBUNIT; ISOCITRATE DEHYDROGENASE, NAD(+)-
SPECIFIC, MITOCHONDRIAL, BETA SUBUNIT)
Molecular Tests IDS (IDURONATE SULFATASE) MUCOPOLYSACCHARIDOSIS, TYPE 2 1240
Molecular Tests IDUA (ALPHA-L-IDURONIDASE) » HUNTER SYNDROME

MUCOPOLYSACCHARIDOSIS, TYPE IH 1460
» HURLER SYNDROME
Molecular Tests IDUA (ALPHA-L-IDURONIDASE) MUCOPOLYSACCHARIDOSIS, TYPE IH/S 1460
» HURLER-SCHEIE SYNDROME
Molecular Tests IDUA (ALPHA-L-IDURONIDASE) MUCOPOLYSACCHARIDOSIS, TYPE 5, MPS5 1460
» SCHEIE SYNDROME
Molecular Tests IFT80 (INTRAFLAGELLAR TRANSPORT 80, ASPHYXIATING THORACIC DYSTROPHY, TYPE 2 1300
CHLAMYDOMONAS, HOMOLOG OF; WD REPEAT- » JEUNE SYNDROME
CONTAINING PROTEIN 56)
Molecular Tests IGHM (IMMUNOGLOBULIN MU) AGAMMAGLOBULINEMIA, NON-BRUTON TYPE (AUTOSOMAL RECESSIVE) 1300
Molecular Tests IGHMBP2 (IMMUNOGLOBULIN MU BINDING PROTEIN 2, SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1, SMARD1 2210
CARDIAC TRANSCRIPTION FACTOR 1, CATF1)
» NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE 6

Molecular Tests IHH (INDIAN HEDGEHOG) BRACHYDACTYLY TYPE A1, BDA1 760
Molecular Tests IHH (INDIAN HEDGEHOG) » FARABEE TYPE BRACHYDACTYLY

ACROCAPITOFEMORAL DYSPLASIA, ACFD 760
Molecular Tests IKBKAP (IKK COMPLEX-ASSOCIATED PROTEIN, IKAP) DYSAUTONOMIA, FAMILIAL, DYS 2710
» RILEY-DAY SYNDROME
Molecular Tests IKBKAP (IKK COMPLEX-ASSOCIATED PROTEIN, IKAP) DYSAUTONOMIA, FAMILIAL, DYS 510
» RILEY-DAY SYNDROME
Molecular Tests IKBKG (NEMO) HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNE DEFICIENCY 1310
Molecular Tests IKBKG (NEMO) HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNE DEFICIENCY 760
Molecular Tests IKBKG (NEMO) BLOCH-SULZBERGER DISEASE 1310
Molecular Tests IKBKG (NEMO) » INCONTINENTIA PIGMENTI

BLOCH-SULZBERGER DISEASE 760
Molecular Tests IL1RAPL1 (INTERLEUKIN 1 RECEPTOR ACCESSORY » INCONTINENTIA

MENTAL PIGMENTI
RETARDATION, NONSPECIFIC (X-LINKED), TYPE 21, MRX21 1350
PROTEIN-LIKE 1; INTERLEUKIN 1 RECEPTOR 8) » MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 34, MRX34
Molecular Tests IL2RG (INTERLEUKIN 2 RECEPTOR, GAMMA) SEVERE COMBINED IMMUNODEFICIENCY (X-LINKED), T CELL-NEGATIVE, B CELL- 1160
POSITIVE, NK CELL-NEGATIVE, SCIDX1
Molecular Tests IL7R (INTERLEUKIN 7 RECEPTOR) SEVERE COMBINED IMMUNODEFICIENCY (AUTOSOMAL RECESSIVE), T CELL- 1430
NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, SCID
Molecular Tests IMPDH1 (IMP DEHYDROGENASE 1;INOSINE-5-PRIME- LEBER CONGENITAL AMAUROSIS, TYPE 11, LCA11 1030
MONOPHOSPHATE DEHYDROGENASE, TYPE 1)
Molecular Tests IMPDH1 (IMP DEHYDROGENASE 1;INOSINE-5-PRIME- RETINITIS PIGMENTOSA, TYPE 10, RP10 1030
MONOPHOSPHATE DEHYDROGENASE, TYPE 1)
Molecular Tests IMPG2 (INTERPHOTORECEPTOR MATRIX RETINITIS PIGMENTOSA, TYPE 56, RP56 1130
PROTEOGLYCAN 2; SPACRCAN) » MACULOPATHY, IMPG2-RELATED
Molecular Tests INF2 (INVERTED FORMIN 2) FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 5 1460
Molecular Tests INS (INSULIN, PROINSULIN) HYPERPROINSULINEMIA 750

» HYPERINSULINEMIA
Molecular Tests INSR (INSULIN RECEPTOR) INSULIN RESISTANCE 1560
Molecular Tests INSR (INSULIN RECEPTOR) DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS 1560
Molecular Tests INSR (INSULIN RECEPTOR) LEPRECHAUNISM 1560
Molecular Tests INSR (INSULIN RECEPTOR) » DONOHUE SYNDROMESYNDROME

RABSON-MENDENHALL 1560
» PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC

ABNORMALITIES
Molecular Tests INSR (INSULIN RECEPTOR) HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 5 1560
Molecular Tests IQCB1 (IQ MOTIF-CONTAINING PROTEIN B1; SENIOR-LOKEN SYNDROME, TYPE 5 990
Molecular Tests IRAK4 (INTERLEUKIN 1 RECEPTOR-ASSOCIATED IRAK4 DEFICIENCY 1820
KINASE 4
Molecular Tests IRAK4 (INTERLEUKIN 1 RECEPTOR-ASSOCIATED INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, TYPE 1, IPD1 1820
KINASE 4 » INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST
Molecular Tests IRF6 VAN DER WOUDE SYNDROME 1340
Molecular Tests IRF6 VAN DER WOUDE SYNDROME 990
Molecular Tests IRF6 POPLITEAL PTERYGIUM SYNDROME 1340
Molecular Tests IRF6 POPLITEAL PTERYGIUM SYNDROME 990
Molecular Tests ISCU (IRON-SULFUR CLUSTER SCAFFOLD, E. COLI, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY 900
HOMOLOG OF) » MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE
» MYOPATHY WITH DEFICIENCY OF SUCCINATE DEHYDROGENASE AND ACONITASE
» MYOGLOBINURIA DUE TO ABNORMAL GLYCOLYSIS
Molecular Tests ITGA2B (INTEGRIN, ALPHA-2B; PLATELET THROMBASTHENIA OF GLANZMANN AND NAEGELI 1610
GLYCOPROTEIN IIb; GP2B; PLATELET FIBRINOGEN » PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY
RECEPTOR, ALPHA SUBUNIT; PLATELET-SPECIFIC » PLATELET FIBRINOGEN RECEPTOR, DEFICIENCY OF
ANTIGEN BAK)
Molecular Tests ITGA6 (INTEGRIN, ALPHA-6) EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA 1810
» APLASIA CUTIS CONGENITA WITH GASTROINTESTINAL ATRESIA

Molecular Tests ITGA7 (INTEGRIN, ALPHA-7) MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY 2460
» MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY
Molecular Tests ITGB2 (INTEGRIN, BETA-2) LEUKOCYTE ADHESION DEFICIENCY, TYPE 1, LAD 2260
Molecular Tests ITGB3 (INTEGRIN, BETA-3) » LFA1 IMMUNODEFICIENCY

THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE 1260
» POSTTRANSFUSION PURPURA
Molecular Tests ITGB3 (INTEGRIN, BETA-3) THROMBASTHENIA OF GLANZMANN AND NAEGELI 1260
» PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY
» PLATELET FIBRINOGEN RECEPTOR, DEFICIENCY OF
Molecular Tests ITGB4 (INTEGRIN, BETA-4) EPIDERMOLYSIS BULLOSA OF HANDS AND FEET 2810
» WEBER-COCKAYNE TYPE EPIDERMOLYSIS BULLOSA SIMPLEX
Molecular Tests ITGB4 (INTEGRIN, BETA-4) EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN 2810
Molecular Tests ITGB4 (INTEGRIN, BETA-4) EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA 2810
» APLASIA CUTIS CONGENITA WITH GASTROINTESTINAL ATRESIA

Molecular Tests ITPR1 (INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE SPINOCEREBELLAR ATAXIA, TYPE 15, SCA15 2210
1; IP3R; IP3R1) » SPINOCEREBELLAR ATAXIA, TYPE 16, SCA16
Molecular Tests IVD (ISOVALERYL-CoA DEHYDROGENASE) ISOVALERIC ACIDEMIA 1020
» ISOVALERIC ACID CoA DEHYDROGENASE DEFICIENCY
Molecular Tests JAG1 (JAGGED1) ALAGILLE SYNDROME 1790
Molecular Tests JAG1 (JAGGED1) TETRALOGY OF FALLOT 1790
Molecular Tests JAK2 (JANUS KINASE 2) THROMBOCYTHEMIA, ESSENTIAL 760
Molecular Tests JAK2 (JANUS KINASE 2) » THROMBOCYTOSIS

MYELOFIBROSIS (AUTOSOMAL
WITH DOMINANT)INCLUDED
MYELOID METAPLASIA, 760
Molecular Tests JAK2 (JANUS KINASE 2) POLYCYTHEMIA VERA 760
Molecular Tests JAK2 (JANUS KINASE 2) BUDD-CHIARI SYNDROME 760

» MEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA
Molecular Tests JAK3 (JANUS KINASE 3) SEVERE COMBINED IMMUNODEFICIENCY (AUTOSOMAL RECESSIVE), T CELL- 2850
NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE, SCID
Molecular Tests JPH3 (JUNCTOPHILIN 3) HUNTINGTON DISEASE-LIKE 2, HDL2 610
Molecular Tests KAL1 (ADHESION MOLECULE-LIKE, X-LINKED, KALLMANN SYNDROME, TYPE 1, KAL1 1980
ANOSMIN 1) » HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA, TYPE 1
» DYSPLASIA OLFACTOGENITALIS OF DE MORSIER
» ANOSMIC HYPOGONADISM
Molecular Tests KBTBD13 (KELCH REPEAT AND BTB/POZ DOMAINS- NEMALINE MYOPATHY 6, NEM6 610
CONTAINING PROTEIN 13)
Molecular Tests KCNA1 (POTASSIUM CHANNEL, VOLTAGE-GATED, EPISODIC ATAXIA, TYPE 1, EA1 510
SHAKER-RELATED SUBFAMILY, MEMBER 1) » EPISODIC ATAXIA WITH MYOKYMIA
» ATAXIA, EPISODIC, WITH MYOKYMIA
» PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY
» MYOKYMIA WITH PERIODIC ATAXIA
» MYOKYMIA
» CONTINUOUS MUSCLE FIBER ACTIVITY, HEREDITARY
» ISAACS-MERTENS SYNDROME
Molecular Tests KCNC3 (POTASSIUM CHANNEL, VOLTAGE-GATED, SPINOCEREBELLAR ATAXIA 13, SCA13 1210
SHAW-RELATED SUBFAMILY, MEMBER 3)
Molecular Tests KCNE1 (MINK, ISK) LONG QT SYNDROME 5, LQT5 510
Molecular Tests KCNE1 (MINK, ISK) » ROMANO-WARD

JERVELL SYNDROME SYNDROME, JLNS1
AND LANGE-NIELSEN 510
Molecular Tests KCNE2 LONG QT SYNDROME 6, LQT6 510
Molecular Tests KCNE3 (POTASSIUM CHANNEL, VOLTAGE-GATED, ISK- » ROMANO-WARD

HYPOKALEMIC SYNDROME
PERIODIC PARALYSIS, HOKPP 610
RELATED SUBFAMILY, MEMBER 3) » HYPERKALEMIC PERIODIC PARALYSIS
Molecular Tests KCNJ1 (POTASSIUM CHANNEL, INWARDLY ANTENATAL BARTTER SYNDROME, TYPE 2 635
RECTIFYING, SUBFAMILY J, MEMBER 1, KIR1.1, ROMK1) » HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA, ANTENATAL, TYPE 2
» HYPERPROSTAGLANDIN E SYNDROME, TYPE 2
Molecular Tests KCNJ11 NESIDIOBLASTOSIS 710
» HYPERINSULINISM (AUTOSOMAL RECESSIVE)
Molecular Tests KCNJ11 » PERSISTENT

DIABETES HYPERINSULINEMIC
MELLITUS, PERMANENT HYPOGLYCEMIA
NEONATAL OF INFANCY 710
Molecular Tests KCNJ13 (POTASSIUM CHANNEL, INWARDLY VITREORETINAL DEGENERATION, SNOWFLAKE TYPE 790
RECTIFYING, SUBFAMILY J, MEMBER 13; INWARDLY
RECTIFYING POTASSIUM CHANNEL Kir7.1)
Molecular Tests KCNJ13 (POTASSIUM CHANNEL, INWARDLY LEBER CONGENITAL AMAUROSIS, TYPE 16, LCA16 790
RECTIFYING, SUBFAMILY J, MEMBER 13; INWARDLY
RECTIFYING POTASSIUM CHANNEL Kir7.1)
Molecular Tests KCNJ2 (POTASSIUM CHANNEL, INWARDLY ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS 1110
RECTIFYING, SUBFAMILY J, MEMBER 2, KIR2.1)
» ANDERSEN SYNDROME LONG QT SYNDROME 7, LQT7
» PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE
Molecular Tests KCNJ2 (POTASSIUM CHANNEL, INWARDLY SHORT QT SYNDROME 3, SQT3 1110
RECTIFYING, SUBFAMILY J, MEMBER 2, KIR2.1)
Molecular Tests KCNQ1 (KVLQT1) LONG QT SYNDROME 1, LQT1 1890
Molecular Tests KCNQ1 (KVLQT1) » ROMANO-WARD

JERVELL SYNDROME SYNDROME, JLNS1
AND LANGE-NIELSEN 1890
Molecular Tests KCNQ1OT1 and H19 BECKWITH-WIEDEMANN SYNDROME, BWS 610
Molecular Tests KCNQ2 (POTASSIUM CHANNEL, VOLTAGE-GATED, » EXOMPHALOS-MACROGLOSSIA-GIGANTISM

EPILEPSY, BENIGN NEONATAL, TYPE 1 SYNDROME 1360
KQT-LIKE SUBFAMILY, MEMBER 2) » CONVULSIONS, BENIGN FAMILIAL NEONATAL, TYPE 1
Molecular Tests KCNQ2 (POTASSIUM CHANNEL, VOLTAGE-GATED, MYOKYMIA WITH NEONATAL EPILEPSY 1360
KQT-LIKE SUBFAMILY, MEMBER 2) » EPILEPSY, BENIGN NEONATAL, WITH MYOKYMIA
» CONVULSIONS, BENIGN FAMILIAL NEONATAL, WITH MYOKYMIA
» BFNC/MYOKYMIA SYNDROME
Molecular Tests KCNQ3 (POTASSIUM CHANNEL, VOLTAGE-GATED, EPILEPSY, BENIGN NEONATAL, TYPE 2 1560
KQT-LIKE SUBFAMILY, MEMBER 3) » CONVULSIONS, BENIGN FAMILIAL NEONATAL, TYPE 2
Molecular Tests KCNQ4 (POTASSIUM CHANNEL, VOLTAGE-GATED, DEAFNESS, DFNA2 1300
KQT-LIKE SUBFAMILY, MEMBER 4) » DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 2
Molecular Tests KCNV2 (POTASSIUM CHANNEL, VOLTAGE-GATED, RETINAL CONE DYSTROPHY, TYPE 3B 1310
SUBFAMILY 5, MEMBER 2) » CONE DYSTROPHY WITH NIGHT BLINDNESS AND SUPERNORMAL ROD RESPONSES,
KCNV2-RELATED
Molecular Tests KDM6A (LYSINE-SPECIFIC DEMETHYLASE 6A; KABUKI SYNDROME, TYPE 2 1290
UBIQUITOUSLY TRANSCRIBED TETRATRICOPEPTIDE
REPEAT GENE ON X CHROMOSOME; UTX)
Molecular Tests KIAA0196 (STRUMPELLIN) FAMILIAL SPASTIC PARAPLEGIA 8 (AUTOSOMAL DOMINANT), SPG8 2510
Molecular Tests KIAA1840 (SPATACSIN) FAMILIAL SPASTIC PARAPLEGIA 11 (AUTOSOMAL RECESSIVE), SPG11 2710
Molecular Tests KIF1B (KINESIN FAMILY MEMBER 1B) CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A, CMT2A 3210
Molecular Tests KIF21A (KINESIN FAMILY MEMBER 21A) FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 1, FEOM1, CFEOM3 510
» OPHTHALMOPLEGIA, CONGENITAL
Molecular Tests KIF21A (KINESIN FAMILY MEMBER 21A) FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 3, FEOM3, CFEOM3 510
Molecular Tests KIF5A (KINESIN FAMILY MEMBER 5A) FAMILIAL SPASTIC PARAPLEGIA 10 (AUTOSOMAL DOMINANT), SPG10 1310
Molecular Tests KIT (V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA PIEBALD TRAIT 1130
VIRAL ONCOGENE HOMOLOG, MAST CELL GROWTH » PIEBALDISM
FACTOR RECEPTOR, STEM CELL FACTOR RECEPTOR)
Molecular Tests KL (KLOTHO) TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 1055

» CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA
» LIPOCALCINOGRANULOMATOSIS
» TEUTSCHLAENDER DISEASE, FAMILIAL
» HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME
Molecular Tests KLF11 (KRUPPEL-LIKE FACTOR 11;TRANSFORMING MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7, MODY7 710
GROWTH FACTOR-BETA-INDUCIBLE EARLY GROWTH
RESPONSE 2; TIEG2)
Molecular Tests KLHL7 (KELCH-LIKE 7) RETINITIS PIGMENTOSA, TYPE 42, RP42 890
Molecular Tests KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL LUNG CANCER, SQUAMOUS CELL 840
ONCOGENE HOMOLOG, KRAS2, KRAS1)
Molecular Tests KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL LEUKEMIA, ACUTE MYELOGENOUS 840
Molecular Tests KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL STOMACH CANCER 840
Molecular Tests KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL BLADDER CANCER, TRANSITIONAL CELL 840
Molecular Tests KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL PANCREATIC CARCINOMA 840
Molecular Tests KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL BREAST CANCER, FAMILIAL 840
Molecular Tests KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL CARDIOFACIOCUTANEOUS SNDROME, CFCY 840
Molecular Tests KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL NOONAN SYNDROME, TYPE 3 840
Molecular Tests KRIT1 (KREV INTERACTION TRAPPED 1; CCM1) CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 1 1910
Molecular Tests KRT1 and KRT10 (KERATIN 1 and KERATIN 10) ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL 1250
» BROCQ SYNDROME
» EPIDERMOLYTIC HYPERKERATOSIS
» HYPERKERATOSIS, ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL

Molecular Tests KRT1 and KRT10 (KERATIN 1 and KERATIN 10) ICHTHYOSIS BULLOSA (SIEMENS) 1250
Molecular Tests KRT1 (KERATIN 1) CYCLIC ICHTHYOSIS WITH EPIDERMOLYTIC HYPERKERATOSIS 1470
» HYPERKERATOSIS, CYCLIC ICHTHYOSIS WITH EPIDERMOLYTIC HYPERKERATOSIS

Molecular Tests KRT1 (KERATIN 1) CYCLIC ICHTHYOSIS WITH EPIDERMOLYTIC HYPERKERATOSIS 775
» HYPERKERATOSIS, CYCLIC ICHTHYOSIS WITH EPIDERMOLYTIC HYPERKERATOSIS
Molecular Tests KRT1 (KERATIN 1) ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL 1470
» BROCQ SYNDROME

» BROCQ SYNDROME

Molecular Tests KRT1 (KERATIN 1) ICHTHYOSIS BULLOSA (SIEMENS) 1470
Molecular Tests KRT1 (KERATIN 1) NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA 1470
» UNNA-THOST DISEASE
» BROCQ SYNDROME

» BROCQ SYNDROME

Molecular Tests KRT13 (KERATIN 13) WHITE SPONGE NEVUS 1430
Molecular Tests KRT14 (KERATIN 14) EPIDERMOLYSIS BULLOSA SIMPLEX (DOWLING-MEARA TYPE) 1430
Molecular Tests KRT14 (KERATIN 14) EPIDERMOLYSIS BULLOSA SIMPLEX (WEBER-COCKAYNE TYPE) 1430
Molecular Tests KRT14 (KERATIN 14) EPIDERMOLYSIS BULLOSA SIMPLEX (KOEBNER TYPE) 1430
Molecular Tests KRT16 and KRT17 (KERATIN 16 and KERATIN 17) NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA 1200
Molecular Tests KRT16 and KRT6A (KERATIN 16 and KERATIN 6A) JADASSOHN-LEWANDOWSKY SYNDROME 1250
» PACHYONYCHIA CONGENITA, TYPE 1

Molecular Tests KRT16 (KERATIN 16) JADASSOHN-LEWANDOWSKY SYNDROME 1430
Molecular Tests KRT16 (KERATIN 16) » PACHYONYCHIA CONGENITA,

NONEPIDERMOLYTIC TYPE 1 KERATODERMA
PALMOPLANTAR 1430
Molecular Tests KRT17 (KERATIN 17) JACKSON-LAWLER DISEASE 1430
Molecular Tests KRT17 (KERATIN 17) » PACHYONYCHIA MULTIPLEX

STEATOCYSTOMA CONGENITA, TYPE 2 1430
Molecular Tests KRT2E (KERATIN 2E) ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL 1430
» BROCQ SYNDROME

Molecular Tests KRT2E (KERATIN 2E) ICHTHYOSIS BULLOSA (SIEMENS) 1430
Molecular Tests KRT4 and KRT13 (KERATIN 4 and KERATIN 13) WHITE SPONGE NEVUS 1250
Molecular Tests KRT4 (KERATIN 4) WHITE SPONGE NEVUS 1430
Molecular Tests KRT5 (KERATIN 5) EPIDERMOLYSIS BULLOSA SIMPLEX (DOWLING-MEARA TYPE) 1430
Molecular Tests KRT5 (KERATIN 5) EPIDERMOLYSIS BULLOSA SIMPLEX (WEBER-COCKAYNE TYPE) 1430
Molecular Tests KRT5 (KERATIN 5) EPIDERMOLYSIS BULLOSA SIMPLEX (KOEBNER TYPE) 1430
Molecular Tests KRT6A (KERATIN 6A) JADASSOHN-LEWANDOWSKY SYNDROME 1430
Molecular Tests KRT6B (KERATIN 6B) » PACHYONYCHIA CONGENITA,

JACKSON-LAWLER DISEASE TYPE 1 1430
Molecular Tests KRT9 (KERATIN 9) » PACHYONYCHIAPALMOPLANTAR

EPIDERMOLYTIC CONGENITA, TYPE 2
KERATODERMA 1430
» VORNER DISEASE
Molecular Tests KRT9 (KERATIN 9) EPIDERMOLYTIC PALMOPLANTAR KERATODERMA 830
» VORNER DISEASE
Molecular Tests LAMA2 (ALPHA-2 LAMININ, HEAVY CHAIN LAMININ 2, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, TYPE 1A, MDC1A 1510
MEROSIN)
Molecular Tests LAMA2 (ALPHA-2 LAMININ, HEAVY CHAIN LAMININ 2, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, TYPE 1A, MDC1A 960
MEROSIN)
Molecular Tests LAMA3 (LAMININ, ALPHA-3) EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN 2810
Molecular Tests LAMA3 (LAMININ, ALPHA-3) EPIDERMOLYSIS BULLOSA LETALIS 2810
» EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE

Molecular Tests LAMA3, LAMB3 and LAMC2 EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN 1110
Molecular Tests LAMA3, LAMB3 and LAMC2 EPIDERMOLYSIS BULLOSA LETALIS 1110

Molecular Tests LAMB2 (LAMININ, BETA-2) PIERSON SYNDROME 1870
» MICROCORIA-CONGENITAL NEPHROTIC SYNDROME
» NEPHROTIC SYNDROME, CONGENITAL, WITH OR WITHOUT OCULAR
ABNORMALITIES, INCLUDED
Molecular Tests LAMB3 (LAMININ, BETA-3) EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN 1810
Molecular Tests LAMB3 (LAMININ, BETA-3) EPIDERMOLYSIS BULLOSA LETALIS 1810

Molecular Tests LAMC2 (LAMININ, GAMMA-2) EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN 1810
Molecular Tests LAMC2 (LAMININ, GAMMA-2) EPIDERMOLYSIS BULLOSA LETALIS 1810

Molecular Tests LAMP2 (LYSOSOME-ASSOCIATED MEMBRANE GLYCOGEN STORAGE DISEASE, TYPE 2B 1080
PROTEIN 2)
» GSD TYPE 2B
» VACUOLAR CARDIOMYOPATHY AND MYOPATHY (X-LINKED)
» LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE

DEFICIENCY
» GLYCOGEN STORAGE CARDIOMYOPATHY
» PSEUDOGLYCOGENOSIS 2
Molecular Tests LARGE (ACETYLGLUCOSAMINYLTRANSFERASE-LIKE WALKER-WARBURG SYNDROME 1630
PROTEIN ;LIKE-GLYCOSYLTRANSFERASE) » HYDROCEPHALUS, AGYRIA, AND RETINAL DYSPLASIA
» HARD SYNDROME
» PAGON SYNDROME
Molecular Tests LARGE (ACETYLGLUCOSAMINYLTRANSFERASE-LIKE MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D 1630

PROTEIN ;LIKE-GLYCOSYLTRANSFERASE)
Molecular Tests LCA5 (LEBERCILIN) LEBER CONGENITAL AMAUROSIS, TYPE 5, LCA5 580
Molecular Tests LCAT (LECITHIN:CHOLESTEROL ACYLTRANSFERASE) FISH-EYE DISEASE 760
Molecular Tests LCAT (LECITHIN:CHOLESTEROL ACYLTRANSFERASE) LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY 760
» LCAT DEFICIENCY
Molecular Tests LCT (LACTASE) LACTOSE INTOLERANCE 520
» HYPOLACTASIA
» DISACCHARIDE INTOLERANCE
Molecular Tests LDB3 (LIM DOMAIN-BINDING 3, ZASP, CYPHER) CARDIOMYOPATHY, DILATED, TYPE 1C 1410
» CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION
Molecular Tests LDB3 (LIM DOMAIN-BINDING 3, ZASP, CYPHER) MYOPATHY, MYOFIBRILLAR, ZASP-RELATED 1410
Molecular Tests LDHA (LACTATE DEHYDROGENASE A) GLYCOGEN STORAGE DISEASE, TYPE 11 1110
» LACTATE DEHYDROGENASE A DEFICIENCY
Molecular Tests LDLR (LDL RECEPTOR) HYPERCHOLESTEROLEMIA (AUTOSOMAL DOMINANT) 1310
Molecular Tests LDLR (LDL RECEPTOR) HYPERCHOLESTEROLEMIA (AUTOSOMAL DOMINANT) 610
Molecular Tests LDLRAP1 (LOW DENSITY LIPOPROTEIN RECEPTOR HYPERCHOLESTEROLEMIA (AUTOSOMAL RECESSIVE), ARH 810
ADAPTOR PROTEIN 1, LDLR ADAPTOR PROTEIN 1, ARH)
Molecular Tests LEMD3 (LEM DOMAIN-CONTAINING 3, MAN1) MELORHEOSTOSIS 1160
Molecular Tests LEMD3 (LEM DOMAIN-CONTAINING 3, MAN1) » MELORHEOSTOSIS WITH

BUSCHKE-OLLENDORFF OSTEOPOIKILOSIS
SYNDROME 1160
» DERMATOOSTEOPOIKILOSIS
» DERMATOFIBROSIS, DISSEMINATED, WITH OSTEOPOIKILOSIS
» DERMATOFIBROSIS LENTICULARIS DISSEMINATA WITH OSTEOPOIKILOSIS
Molecular Tests LEP (LEPTIN) OBESITY, SEVERE, DUE TO LEPTIN DEFICIENCY 760
» OBESITY, MORBID, WITH HYPOGONADISM
Molecular Tests LEPR (LEPTIN RECEPTOR) OBESITY, SEVERE, DUE TO LEPTIN DEFICIENCY 1760
» OBESITY, MORBID, WITH HYPOGONADISM
Molecular Tests LEPRE1 (LEUCINE- AND PROLINE-ENRICHED OSTEOGENESIS IMPERFECTA, TYPE 8, OI8 860
PROTEOGLYCAN 1, LEPRECAN, PROLYL 3-
HYDROXYLASE 1)
Molecular Tests LFNG (LUNATIC FRINGE; FRINGE, DROSOPHILA, SPONDYLOCOSTAL DYSOSTOSIS, TYPE 3 (AUTOSOMAL RECESSIVE) 980
HOMOLOG OF, LUNATIC)
Molecular Tests LGI1 (LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; EPILEPSY, LATERAL TEMPORAL LOBE (AUTOSOMAL DOMINANT), ADLTE 1060
EPITEMPIN) » EPILEPSY, PARTIAL, WITH AUDITORY FEATURES, ADPEAF
Molecular Tests LHCGR (LUTEINIZING HORMONE / LEYDIG CELL HYPOPLASIA WITH MALE PSEUDOHERMAPHRODITISM 1980
CHORIOGONADOTROPIN RECEPTOR, LUTROPIN-
CHORIOGONADOTROPIN RECEPTOR )
Molecular Tests LHCGR (LUTEINIZING HORMONE / HYPERGONADOTROPIC HYPOGONADISM, FEMALE 1980
Molecular Tests LHCGR (LUTEINIZING HORMONE / MICROPENIS 1980
Molecular Tests LHCGR (LUTEINIZING HORMONE / PRECOCIOUS PUBERTY, MALE-LIMITED 1980
CHORIOGONADOTROPIN RECEPTOR, LUTROPIN- » SEXUAL PRECOCITY, FAMILIAL, GONADOTROPIN-INDEPENDENT
CHORIOGONADOTROPIN RECEPTOR ) » TESTOTOXICOSIS, FAMILIAL
Molecular Tests LHX3 (LIM HOMEOBOX GENE 3, LIM3) PITUITARY DWARFISM 3 850
» PANHYPOPITUITARISM
» HANHART DWARFISM
» PITUITARY HORMONE DEFICIENCY, COMBINED
» PITUITARY HORMONE DEFICIENCY, COMBINED WITH RIGID CERVICAL SPINE,
INCLUDED
Molecular Tests LHX4 (LIM HOMEOBOX GENE 4, LHX4, LHX4/IGHG1 SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA 1150
FUSION GENE) TURCICA
Molecular Tests LIFR (LEUKEMIA INHIBITORY FACTOR RECEPTOR) STUVE-WIEDEMANN SYNDROME 2710
» SCHWARTZ-JAMPEL SYNDROME, TYPE 2
» SCHWARTZ-JAMPEL SYNDROME, NEONATAL
Molecular Tests LIFR (LEUKEMIA INHIBITORY FACTOR RECEPTOR) STUVE-WIEDEMANN SYNDROME 710
» SCHWARTZ-JAMPEL SYNDROME, TYPE 2
» SCHWARTZ-JAMPEL SYNDROME, NEONATAL
Molecular Tests LIPA (LIPASE A, LYSOSOMAL ACID;CHOLESTEROL WOLMAN DISEASE 1210
ESTER HYDROLASE) » LYSOSOMAL ACID LIPASE DEFICIENCY
» LIPA DEFICIENCY
» CHOLESTERYL ESTER STORAGE DISEASE
Molecular Tests LIPC (HEPATIC LIPASE, LIPH, HEPATIC TRIGLYCERIDE HEPATIC LIPASE DEFICIENCY 1160
LIPASE, HTGL)
Molecular Tests LITAF (LIPOPOLYSACCHARIDE-INDUCED TUMOR CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C, CMT1C, HMSN1C 710
NECROSIS FACTOR-ALPHA FACTOR)
Molecular Tests LMBRD1 (LMBR1 DOMAIN-CONTAINING PROTEIN 1; METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE 2100
LMBD1; NES-INTERACTING PROTEIN; NESI) » VITAMIN B12 LYSOSOMAL RELEASE DEFECT
Molecular Tests LMNA (LAMIN A/C) DILATED CARDIOMYOPATHY WITH CARDIAC CONDUCTION DEFECTS, CMD1A 1010
Molecular Tests LMNA (LAMIN A/C) LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, FPLD2 1010
Molecular Tests LMNA (LAMIN A/C) » LIPODYSTROPHY,

MUSCULAR DUNNIGAN
DYSTROPHY, TYPE
LIMB-GIRDLE, TYPE 1B, LGMD1B 1010
Molecular Tests LMNA (LAMIN A/C) HUTCHINSON-GILFORD PROGERIA SYNDROME 1010
Molecular Tests LMNA (LAMIN A/C) EMERY–DREYFUSS MUSCULAR DYSTROPHY (AUTOSOMAL DOMINANT ), EDMD2 1010
Molecular Tests LMNA (LAMIN A/C) MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, MADA 1010
Molecular Tests LMNA (LAMIN A/C) WERNER SYNDROME 1010
Molecular Tests LMNA (LAMIN A/C) EMERY–DREYFUSS MUSCULAR DYSTROPHY (AUTOSOMAL RECESSIVE ), EDMD3 1010
Molecular Tests LMNA (LAMIN A/C) CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1, CMT2B1 1010
Molecular Tests LMNA (LAMIN A/C) LIPOATROPHY WITH DIABETES, HEPATIC STEATOSIS, HYPERTROPHIC 1010
CARDIOMYOPATHY AND LEUKOMELANODERMIC PAPULES, LDHCP
Molecular Tests LMNB1 (LAMIN B1) LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET (AUTOSOMAL DOMINANT), 770
ADLD
» PELIZAEUS-MERZBACHER DISEASE (AUTOSOMAL DOMINANT) OR LATE-ONSET
TYPE, FORMERLY
Molecular Tests LMX1B NAIL-PATELLA SYNDROME, NPS 860
Molecular Tests LONG QT PANEL 1: KCNQ1, HERG LONG QT SYNDROME 1160
Molecular Tests LPIN1 (LIPIN 1; PHOSPHATIDIC ACID MYOGLOBINURIA, ACUTE RECURRENT, (AUTOSOMAL RECESSIVE) 1440
PHOSPHOHYDROLASE 1; PAP1) » MYOGLOBINURIA, FAMILIAL PAROXYSMAL PARALYTIC
» RHABDOMYOLYSIS, ACUTE RECURRENT
Molecular Tests LPL (LIPOPROTEIN LIPASE) HYPERLIPOPROTEINEMIA TYPE 1 960
» LIPOPROTEIN LIPASE DEFICIENCY

Molecular Tests LPL (LIPOPROTEIN LIPASE) HYPERLIPOPROTEINEMIA TYPE 1 610
» LIPOPROTEIN LIPASE DEFICIENCY

Molecular Tests LRAT (LECITHIN RETINOL ACYLTRANSFERASE) RETINAL DYSTROPHY, EARLY-ONSET SEVERE 750
Molecular Tests LRP2 (LOW DENSITY LIPOPROTEIN RECEPTOR- DONNAI-BARROW SYNDROME 2710
RELATED PROTEIN 2; GLYCOPROTEIN 330; MEGALIN) » FACIOOCULOACOUSTICORENAL SYNDROME
» DBS/FOAR SYNDROME
» DIAPHRAGMATIC HERNIA, EXOMPHALOS, ABSENT CORPUS CALLOSUM,
HYPERTELORISM, MYOPIA, SENSORINEURAL DEAFNESS, AND PROTEINURIA
Molecular Tests LRPPRC (LEUCINE-RICH PPR MOTIF-CONTAINING LEIGH SYNDROME, FRENCH CANADIAN TYPE 2210
PROTEIN) » CYTOCHROME c OXIDASE DEFICIENCY, FRENCH CANADIAN TYPE
» LEIGH SYNDROME, SAGUENAY-LAC-SAINT-JEAN TYPE
Molecular Tests LRRK2 (LEUCINE-RICH REPEAT KINASE) PARKINSON DISEASE, TYPE 8, PARK8 610
Molecular Tests LRRK2 (LEUCINE-RICH REPEAT KINASE) PARKINSON DISEASE, TYPE 8, PARK8 2810
Molecular Tests LTBP4 (LATENT TRANSFORMING GROWTH FACTOR- CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY 1160
BETA-BINDING PROTEIN 4) ABNORMALITIES
» URBAN-RIFKIN-DAVIS SYNDROME
Molecular Tests LYST (LYSOSOMAL TRAFFICKING REGULATOR; CHS1) CHEDIAK-HIGASHI SYNDROME 1410
Molecular Tests MAK (MALE GERM CELL-ASSOCIATED KINASE) RETINITIS PIGMENTOSA, TYPE 62, RP62 990
Molecular Tests MAN2B1 (MANNOSIDASE, ALPHA, CLASS 2B, MEMBER ALPHA MANNOSIDOSIS 2500
1; MANB)
Molecular Tests MANBA (MANNOSIDASE, BETA A, LYSOSOMAL) MANNOSIDOSIS, BETA A, LYSOSOMAL 1940
» BETA-MANNOSIDASE DEFICIENCY
Molecular Tests MAP2K1 (MITOGEN-ACTIVATED PROTEIN KINASE CARDIOFACIOCUTANEOUS SYNDROME, CFC 990
KINASE 1, MEK1) » CFC SYNDROME
Molecular Tests MAP2K2 (MITOGEN-ACTIVATED PROTEIN KINASE CARDIOFACIOCUTANEOUS SYNDROME, CFC 990
KINASE 2, MEK2) » CFC SYNDROME
Molecular Tests MAPT (MICROTUBULE-ASSOCIATED PROTEIN TAU) 17q21.31 MICRODELETION SYNDROME 610
Molecular Tests MAPT (MICROTUBULE-ASSOCIATED PROTEIN TAU) PICK DISEASE OF BRAIN 1810
Molecular Tests MAPT (MICROTUBULE-ASSOCIATED PROTEIN TAU) FRONTOTEMPORAL DEMENTIA 1810
» MULTIPLE SYSTEM TAUOPATHY WITH PRESENILE DEMENTIA
» DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEX
» WILHELMSEN-LYNCH DISEASE
» FRONTOTEMPORAL DEMENTIA-AMYOTROPHIC LATERAL SCLEROSIS
» PALLIDOPONTONIGRAL DEGENERATION
Molecular Tests MAPT (MICROTUBULE-ASSOCIATED PROTEIN TAU) SUPRANUCLEAR PALSY, PROGRESSIVE, 1 1810
» STEELE-RICHARDSON-OLSZEWSKI SYNDROME
Molecular Tests MAT1A (METHIONINE ADENOSYLTRANSFERASE I, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY 910
ALPHA; S-ADENOSYLMETHIONINE SYNTHETASE 1, » MAT DEFICIENCY
SAMS1) » HYPERMETHIONINEMIA, ISOLATED PERSISTENT
Molecular Tests MBL2 (LECTIN, MANNOSE-BINDING, SOLUBLE, 2, SUSCEPTIBILITY TO INFECTION 810
MANNAN-BINDING PROTEIN, COLLECTIN 1)
Molecular Tests MBL2 (LECTIN, MANNOSE-BINDING, SOLUBLE, 2, SUSCEPTIBILITY TO INFECTION 510
Molecular Tests MBL2 (LECTIN, MANNOSE-BINDING, SOLUBLE, 2, MANNOSE-BINDING PROTEIN DEFICIENCY 810
Molecular Tests MBL2 (LECTIN, MANNOSE-BINDING, SOLUBLE, 2, MANNOSE-BINDING PROTEIN DEFICIENCY 510
Molecular Tests MBTPS2 (MEMBRANE-BOUND TRANSCRIPTION IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME 1060
FACTOR PROTEASE, SITE 2; SITE-2 PROTEASE; S2P)
Molecular Tests MBTPS2 (MEMBRANE-BOUND TRANSCRIPTION KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED 1060
FACTOR PROTEASE, SITE 2; SITE-2 PROTEASE; S2P) » KERATOSIS FOLLICULARIS SPINULOSA DECALVANS CUM OPHIASI
Molecular Tests MC2R (MELANOCORTIN 2 RECEPTOR; ACTH GLUCOCORTICOID DEFICIENCY 1 850

RECEPTOR)
» ADRENAL UNRESPONSIVENESS TO ACTH
Molecular Tests MC4R (MELANOCORTIN 4 RECEPTOR) OBESITY 560
Molecular Tests MCCC1 (3-@METHYLCROTONYL-CoA CARBOXYLASE 1; 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY 1770

MCCA) » METHYLCROTONYLGLYCINURIA TYPE 1
MCCA) » METHYLCROTONYLGLYCINURIA TYPE 1
MCCB) » METHYLCROTONYLGLYCINURIA TYPE 2
MCCB) » METHYLCROTONYLGLYCINURIA TYPE 2
Molecular Tests MCEE (METHYLMALONYL-CoA EPIMERASE; METHYLMALONYL-CoA EPIMERASE DEFICIENCY 720
METHYLMALONYL-CoA RACEMASE) » METHYLMALONIC ACIDURIA, TYPE 3
Molecular Tests MCOLN1 (ML4, MUCOLYPIN) MUCOLIPIDOSIS, TYPE 4, ML4 880
Molecular Tests MCP (MEMBRANE COFACTOR PROTEIN, MEASLES HEMOLYTIC-UREMIC SYNDROME, HUS 1130
VIRUS RECEPTOR, CD46, MIC10, TLX, TRA2.10) » COMBINED DEFICIENCY OF FACTOR H AND FACTOR H-LIKE 1
Molecular Tests MECP2 NONSPECIFIC MENTAL RETARDATION (X-LINKED), MRX16 1000
Molecular Tests MECP2 » MENTAL RETARDATION,

NONSPECIFIC NONSPECIFIC
MENTAL RETARDATION (X-LINKED),
(X-LINKED), TYPE16, MRX16
MRX16 820
Molecular Tests MECP2 » MENTAL

MENTAL RETARDATION,
RETARDATION NONSPECIFIC
WITH (X-LINKED),
PSYCHOSIS, PYRAMIDAL TYPE16,
SIGNS,MRX16
AND 1000
MACROORCHIDISM
Molecular Tests MECP2 MENTAL RETARDATION WITH PSYCHOSIS, PYRAMIDAL SIGNS, AND 820
MACROORCHIDISM
Molecular Tests MECP2 RETT SYNDROME 1000
Molecular Tests MECP2 RETT SYNDROME 820
Molecular Tests MED12 (MEDIATOR OF RNA POLYMERASE II OPITZ-KAVEGGIA SYNDROME 1210
TRANSCRIPTION, SUBUNIT 12, S. CEREVISIAE, » FG SYNDROME, TYPE 1
HOMOLOG OF; TRINUCLEOTIDE REPEAT-CONTAINING » MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL
GENE 11; THYROID HORMONE RECEPTOR-ASSOCIATED HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM
PROTEIN, 230-KD SUBUNIT)
Molecular Tests MEF2C (MADS BOX TRANSCRIPTION ENHANCER MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL 1850
FACTOR 2, POLYPEPTIDE C) MALFORMATIONS
Molecular Tests MEFV FAMILIAL MEDITERRANEAN FEVER, FMF 1060
Molecular Tests MEFV FAMILIAL MEDITERRANEAN FEVER, FMF 610
Molecular Tests MEN1 (MENIN) MULTIPLE ENDOCRINE NEOPLASIA, TYPE 1, MEN1 900
Molecular Tests MERTK (MER TYROSINE KINASE PROTOONCOGENE) RETINITIS PIGMENTOSA, MERTK-RELATED 1060
Molecular Tests MESP2 (MESODERM POSTERIOR 2) SPONDYLOCOSTAL DYSOSTOSIS, TYPE 2 (AUTOSOMAL RECESSIVE) 560
Molecular Tests MEST (PEG1) SILVER-RUSSELL SYNDROME 455
Molecular Tests MET (MET PROTOONCOGENE; HEPATOCYTE GROWTH HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE 2460
FACTOR RECEPTOR)
Molecular Tests MET (MET PROTOONCOGENE; HEPATOCYTE GROWTH RENAL CELL CARCINOMA, PAPILLARY 2460
FACTOR RECEPTOR)
Molecular Tests MFN2 (MITOFUSIN 2) CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A, CMT2A 1300
Molecular Tests MGAT2 (ALPHA-1,6-@MANNOSYL-GLYCOPROTEIN CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2A, CDG2A 640
BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE)
Molecular Tests MICROCEPHALY PANEL: MCPH1, CENPJ, STIL, MICROCEPHALY 4440

CDK5RAP2
Molecular Tests MID1 (MIDLINE 1, MIDIN, MIDLINE 1 RING FINGER OPITZ SYNDROME 1160
GENE)
» OPITZ G/BBB SYNDROME (X-LINKED)
» OPITZ SYNDROME (X-LINKED)

Molecular Tests MITF WAARDENBURG SYNDROME, TYPE 2, WS2 990
Molecular Tests MITF WAARDENBURG SYNDROME, TYPE 2, WS2 810
Molecular Tests MKS1 MECKEL SYNDROME, TYPE 1 1510
» DYSENCEPHALIA SPLANCHNOCYSTICA
» GRUBER SYNDROME
Molecular Tests MLC1 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1220
Molecular Tests MLH1 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC, TYPE 2 1280
» LYNCH CANCER FAMILY SYNDROME, TYPE 2
Molecular Tests MLH1 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC, TYPE 1 1280
Molecular Tests MLL2 (MYELOID/LYMPHOID OR MIXED LINEAGE KABUKI SYNDROME 3220
LEUKEMIA 2; ALR) » NIIKAWA-KUROKI SYNDROME
Molecular Tests MLL2 (MYELOID/LYMPHOID OR MIXED LINEAGE KABUKI SYNDROME 880
LEUKEMIA 2; ALR) » NIIKAWA-KUROKI SYNDROME
Molecular Tests MLYCD (MALONYL-CoA DECARBOXYLASE) MALONYL-CoA DECARBOXYLASE DEFICIENCY 1120
Molecular Tests MMAA METHYLMALONIC ACIDURIA, cblA TYPE 850

» METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN
SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE
Molecular Tests MMAB (COBALAMIN ADENOSYLTRANSFERASE) METHYLMALONIC ACIDURIA, cblB TYPE 1030
» METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN
SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE
Molecular Tests MMACHC METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE 720
» VITAMIN B12 METABOLIC DEFECT WITH COMBINED DEFICIENCY OF
METHYLMALONYL-CoA MUTASE AND
HOMOCYSTEINE:METHYLTETRAHYDROFOLATE METHYLTRANSFERASE
Molecular Tests MMADHC METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE 1130
» HOMOCYSTINURIA, cblD TYPE
Molecular Tests MNX1 (MOTOR NEURON AND PANCREAS HOMEOBOX CURRARINO TRIAD 960
1; HLXB9; HOMEOBOX GENE HB9) » SACRAL AGENESIS SYNDROME
» SACRAL AGENESIS, HEREDITARY, WITH PRESACRAL MASS, ANTERIOR
MENINGOCELE, AND/OR TERATOMA, AND ANORECTAL MALFORMATION
Molecular Tests MOCS1 (MOLYBDENUM COFACTOR SYNTHESIS GENE MOLYBDENUM COFACTOR DEFICIENCY 1450
1) » SULFITE OXIDASE, XANTHINE DEHYDROGENASE, AND ALDEHYDE OXIDASE,
Molecular Tests MOCS2 (MOLYBDENUM COFACTOR SYNTHESIS GENE MOLYBDENUM COFACTOR DEFICIENCY 1200
2) » SULFITE OXIDASE, XANTHINE DEHYDROGENASE, AND ALDEHYDE OXIDASE,
Molecular Tests MPDU1 (MANNOSE-P-DOLICHOL UTILIZATION DEFECT CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1F, CDG1F 1040
1)
Molecular Tests MPI (MANNOSEPHOSPHATE ISOMERASE; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1B, CDG1B 890
PHOSPHOMANNOSE ISOMERASE 1) » SAGUENAY-LAC SAINT-JEAN SYNDROME, SLSJ SYNDROME
» MANNOSEPHOSPHATE ISOMERASE DEFICIENCY
» PROTEIN-LOSING ENTEROPATHY-HEPATIC FIBROSIS SYNDROME
Molecular Tests MPL (MYELOPROLIFERATIVE LEUKEMIA VIRUS THROMBOCYTHEMIA, ESSENTIAL 760

ONCOGENE, TPOR)
Molecular Tests MPL (MYELOPROLIFERATIVE LEUKEMIA VIRUS » THROMBOCYTOSIS
MYELOFIBROSIS (AUTOSOMAL
WITH DOMINANT)INCLUDED
MYELOID METAPLASIA, 760
ONCOGENE, TPOR)
Molecular Tests MPV17 (MPV17, MOUSE, HOMOLOG OF) MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM 760
Molecular Tests MPZ (MYELIN PROTEN ZERO, P0) CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B, CMT1B 810
Molecular Tests MPZ (MYELIN PROTEN ZERO, P0) CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F, CMT4F 810
Molecular Tests MPZ (MYELIN PROTEN ZERO, P0) ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA 810
Molecular Tests MPZ (MYELIN PROTEN ZERO, P0) NEUROPATHY, CONGENITAL HYPOMYELINATING 810
Molecular Tests MPZ (MYELIN PROTEN ZERO, P0) CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I, CMT2I 810
Molecular Tests MPZ (MYELIN PROTEN ZERO, P0) CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J, CMT2J 810
Molecular Tests MPZ (MYELIN PROTEN ZERO, P0) CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D, CMTDID 810
Molecular Tests MR1 (MYOFIBRILLOGENESIS REGULATOR 1) PAROXYSMAL NONKINESIGENIC DYSKINESIA 1160

» PAROXYSMAL DYSTONIC CHOREOATHETOSIS
» MOUNT-REBACK SYNDROME
» CHOREOATHETOSIS, NONKINESIGENIC
» DYSTONIA 8, DYT8
Molecular Tests MRAP (MELANOCORTIN 2 RECEPTOR ACCESSORY GLUCOCORTICOID DEFICIENCY 2 1060

PROTEIN)
Molecular Tests MRE11A (MEIOTIC RECOMBINATION 11, S. CEREVISIAE, ATAXIA-TELANGIECTASIA-LIKE DISORDER 1510
HOMOLOG OF, A, MRE11)
Molecular Tests MRPS16 (MITOCHONDRIAL RIBOSOMAL PROTEIN S16) COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY, TYPE 2 810
» CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC
ACIDOSIS
Molecular Tests MSH2 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC, TYPE 2 1260
Molecular Tests MSX1 (MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, OROFACIAL CLEFT, TYPE 5 860
HOMOLOG OF, 1) » CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, TYPE 5
Molecular Tests MSX1 (MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, TOOTH AGENESIS, SELECTIVE, TYPE 1 860
HOMOLOG OF, 1) » HYPODONTIA/OLIGODONTIA, TYPE 1
Molecular Tests MSX1 (MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, WITKOP SYNDROME 860
HOMOLOG OF, 1) » NAIL DYSPLASIA WITH HYPODONTIA
» TOOTH-AND-NAIL SYNDROME
Molecular Tests MSX2 (MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, PARIETAL FORAMINA, TYPE 1 1210
HOMOLOG OF, 2) » FORAMINA PARIETALIA PERMAGNA
» CATLIN MARKS
Molecular Tests MSX2 (MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA 1210
HOMOLOG OF, 2)
Molecular Tests MSX2 (MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, CRANIOSYNOSTOSIS, TYPE 2 1210
HOMOLOG OF, 2) » CRANIOSYNOSTOSIS, BOSTON-TYPE
Molecular Tests MTHFR (5,10-@METHYLENETETRAHYDROFOLATE MTHFR DEFICIENCY 910
REDUCTASE) » HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-
METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
Molecular Tests MTM1 (MYOTUBULARIN) MYOTUBULAR MYOPATHY (X-LINKED) 1870
Molecular Tests MTMR2 (MYOTUBULARIN-RELATED PROTEIN 2) CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1 1560
» CHARCOT-MARIE-TOOTH DISEASE WITH FOCALLY FOLDED MYELIN SHEATHS,
TYPE 4B1 (AUTOSOMAL RECESSIVE)
Molecular Tests MTP ABETALIPOPROTEINEMIA 1980
» ACANTHOCYTOSIS
» BASSEN-KORNZWEIG SYNDROME
» APOLIPOPROTEIN B DEFICIENCY
Molecular Tests MTR (5-@METHYLTETRAHYDROFOLATE- METHYLCOBALAMIN DEFICIENCY, cblG TYPE 2610
HOMOCYSTEINE S-METHYLTRANSFERASE; » HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN
TETRAHYDROPTEROYLGLUTAMATE METABOLISM, cblG COMPLEMENTATION TYPE
METHYLTRANSFERASE)
Molecular Tests MTRR (METHIONINE SYNTHASE REDUCTASE) HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN 2700
METABOLISM, TYPE cblE
» VITAMIN B12-RESPONSIVE HOMOCYSTINURIA, cblE TYPE
» METHYLCOBALAMIN DEFICIENCY, cblE TYPE
Molecular Tests MTRR (METHIONINE SYNTHASE REDUCTASE) NEURAL TUBE DEFECTS, FOLATE-SENSITIVE 2700
Molecular Tests MUT (METHYLMALONYL CoA MUTASE, MCM) METHYLMALONIC ACIDURIA DUE TO MCM DEFICIENCY 1290
» MMA DUE TO MCM DEFICIENCY

Molecular Tests MVK (MEVALONATE KINASE) HYPER-IgD SYNDROME 920
Molecular Tests MVK (MEVALONATE KINASE) » PERIODIC SYNDROME

HYPER-IgD FEVER, DUTCH TYPE 1150
Molecular Tests MYBPC3 (MYOSIN-BINDING PROTEIN C, CARDIAC) » PERIODIC FEVER,

HYPERTROPHIC DUTCH TYPE
CARDIOMYOPATHY, FAMILIAL, 4A, CMD4A 310
Molecular Tests MYCN (V-MYC AVIAN MYELOCYTOMATOSIS VIRAL- FEINGOLD SYNDROME 1110
RELATED ONCOGENE, NEUROBLASTOMA-DERIVED) » OCULODIGITOESOPHAGODUODENAL SYNDROME
» ODED SYNDROME
» MICROCEPHALY-OCULO-DIGITO-ESOPHAGEAL-DUODENAL SYNDROME
» DIGITAL ANOMALIES WITH SHORT PALPEBRAL FISSURES AND ATRESIA OF
ESOPHAGUSOR DUODENUM
» MICROCEPHALY, MENTAL RETARDATION, AND TRACHEOESOPHAGEAL FISTULA
SYNDROME
» MMT SYNDROME
Molecular Tests MYCN (V-MYC AVIAN MYELOCYTOMATOSIS VIRAL- FEINGOLD SYNDROME 610
RELATED ONCOGENE, NEUROBLASTOMA-DERIVED) » OCULODIGITOESOPHAGODUODENAL SYNDROME
» ODED SYNDROME
» MICROCEPHALY-OCULO-DIGITO-ESOPHAGEAL-DUODENAL SYNDROME
» DIGITAL ANOMALIES WITH SHORT PALPEBRAL FISSURES AND ATRESIA OF
ESOPHAGUSOR DUODENUM
» MICROCEPHALY, MENTAL RETARDATION, AND TRACHEOESOPHAGEAL FISTULA
SYNDROME
» MMT SYNDROME
Molecular Tests MYH (MUTYH, MUTY, E. COLI, HOMOLOG OF) COLORECTAL ADENOMATOUS POLYPOSIS (AUTOSOMAL RECESSIVE) 1050
Molecular Tests MYH11 (MYOSIN, HEAVY CHAIN 11, SMOOTH MUSCLE, AORTIC ANEURYSM, FAMILIAL THORACIC, TYPE 4 1260
SMOOTH MUSCLE MYOSIN HEAVY CHAIN)
» AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS
Molecular Tests MYH11 (MYOSIN, HEAVY CHAIN 11, SMOOTH MUSCLE, AORTIC ANEURYSM, FAMILIAL THORACIC, TYPE 4 810
SMOOTH MUSCLE MYOSIN HEAVY CHAIN)
» AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS
Molecular Tests MYH3 (MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, ARTHROGRYPOSIS, DISTAL, TYPE 2A 2910
EMBRYONIC) » FREEMAN-SHELDON SYNDROME
» WHISTLING FACE-WINDMILL VANE HAND SYNDROME
» CRANIOCARPOTARSAL DYSTROPHY
Molecular Tests MYH3 (MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, ARTHROGRYPOSIS, DISTAL, TYPE 2A 1310
EMBRYONIC) » FREEMAN-SHELDON SYNDROME
» WHISTLING FACE-WINDMILL VANE HAND SYNDROME
» CRANIOCARPOTARSAL DYSTROPHY
Molecular Tests MYH3 (MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, ARTHROGRYPOSIS, DISTAL, TYPE 2B 2910
EMBRYONIC) » ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B
» SHELDON-HALL SYNDROME
» FREEMAN-SHELDON SYNDROME VARIANT
» ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2, WITH
CRANIOFACIAL ABNORMALITIES
Molecular Tests MYH3 (MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, ARTHROGRYPOSIS, DISTAL, TYPE 2B 1310
EMBRYONIC) » ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B
Molecular Tests MYH6 (MYOSIN, HEAVY CHAIN 6, CARDIAC MUSCLE, CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, TYPE 14 2160
ALPHA;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA)
Molecular Tests MYH6 (MYOSIN, HEAVY CHAIN 6, CARDIAC MUSCLE, CARDIOMYOPATHY, DILATED, TYPE 1EE 2160
Molecular Tests MYH6 (MYOSIN, HEAVY CHAIN 6, CARDIAC MUSCLE, ATRIAL SEPTAL DEFECT, TYPE 3, ASD3 2160
Molecular Tests MYH6 (MYOSIN, HEAVY CHAIN 6, CARDIAC MUSCLE, SICK SINUS SYNDROME, TYPE 3, SUSCEPTIBILITY TO 2160
Molecular Tests MYH7 (MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, MYOPATHY, DISTAL 1, MPD1 1450
BETA) » LAING DISTAL MYOPATHY
» MYOPATHY, DISTAL, EARLY-ONSET (AUTOSOMAL DOMINANT)
Molecular Tests MYH7 (MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, CARDIOMYOPATHY, DILATED, TYPE 1S 1450
BETA)
Molecular Tests MYH7 (MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 1, CMH1 1450
BETA) » VENTRICULAR HYPERTROPHY, HEREDITARY
Molecular Tests MYH7 (MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, MYOPATHY, MYOSIN STORAGE 1450
BETA) » MYOPATHY, HYALINE BODY (AUTOSOMAL DOMINANT)
Molecular Tests MYH8 (MYOSIN, HEAVY CHAIN 8, SKELETAL MUSCLE, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME 2660
PERINATAL) » CARNEY COMPLEX VARIANT ASSOCIATED WITH DISTAL ARTHROGRYPOSIS
Molecular Tests MYH9 (MYOSIN, HEAVY CHAIN 9) FECHTNER SYNDROME 1560
» MACROTHROMBOCYTOPATHY, NEPHRITIS, DEAFNESS, AND LEUKOCYTE

INCLUSIONS
» ALPORT SYNDROME WITH LEUKOCYTE INCLUSIONS AND

Molecular Tests MYH9 (MYOSIN, HEAVY CHAIN 9) EPSTEIN SYNDROME 1560
» MACROTHROMBOCYTOPATHY, NEPHRITIS, AND DEAFNESS

Molecular Tests MYH9 (MYOSIN, HEAVY CHAIN 9) MAY-HEGGLIN ANOMALY 1560
» DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETS

Molecular Tests MYH9 (MYOSIN, HEAVY CHAIN 9) DEAFNESS, DFNA17 1560

Molecular Tests MYH9 (MYOSIN, HEAVY CHAIN 9) SEBASTIAN SYNDROME 1560
Molecular Tests MYL2 (MYOSIN, LIGHT CHAIN 2, REGULATORY, » SEBASTIAN PLATELET

HYPERTROPHIC SYNDROME FAMILIAL, 10, CMH10
CARDIOMYOPATHY, 965
CARDIAC, SLOW)

Molecular Tests MYL3 (MYOSIN, LIGHT CHAIN 3, ALKALI, HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 8, CMH8 860
VENTRICULAR, SKELETAL, SLOW, ESSENTIAL LIGHT
CHAIN OF MYOSIN) » VENTRICULAR HYPERTROPHY, HEREDITARY

Molecular Tests MYO6 (MYOSIN 6) DEAFNESS, DFNA22 1610
Molecular Tests MYO6 (MYOSIN 6) DEAFNESS, DFNB37 1610

» DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 37
Molecular Tests MYO7A (MYOSIN 7A) USHER SYNDROME, TYPE 1B, USH1B 1370
Molecular Tests MYOC (MYOCILIN) » USHER SYNDROME,

GLAUCOMA, PRIMARYTYPE
OPEN1, ANGLE,
NON-ACADIAN VARIETY 1
JUVENILE-ONSET, 910
Molecular Tests NAGLU (N-ACETYLGLUCOSAMINIDASE, ALPHA) MUCOPOLYSACCHARIDOSIS TYPE 3B, MPS3B 1010
» SANFILIPPO SYNDROME B
» N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY
» NAGLU DEFICIENCY
Molecular Tests NAGS (N-ACETYLGLUTAMATE SYNTHASE) N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY 1090

» HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY
Molecular Tests NBS1 (NIBRIN) NIJMEGEN BREAKAGE SYNDROME, NBS 1910
» SEEMANOVA SYNDROME, TYPE 2

» ATAXIA-TELANGIECTASIA VARIANT
» MICROCEPHALY WITH NORMAL INTELLIGENCE, IMMUNODEFICIENCY, AND
LYMPHORETICULAR MALIGNANCIES
» BERLIN BREAKAGE SYNDROME
Molecular Tests NBS1 (NIBRIN) NIJMEGEN BREAKAGE SYNDROME, NBS 510
» SEEMANOVA SYNDROME, TYPE 2

» ATAXIA-TELANGIECTASIA VARIANT
» MICROCEPHALY WITH NORMAL INTELLIGENCE, IMMUNODEFICIENCY, AND
LYMPHORETICULAR MALIGNANCIES
» BERLIN BREAKAGE SYNDROME
Molecular Tests NCF1 (p47 PHOX) CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) CYTOCHROME-b- 780
POSITIVE FORM TYPE 1
Molecular Tests NCF2 (p67 PHOX) CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) CYTOCHROME-b- 2220
POSITIVE FORM TYPE 2
Molecular Tests NDP (NORRIN) COATS DISEASE 840
Molecular Tests NDP (NORRIN) COATS DISEASE 810
Molecular Tests NDP (NORRIN) NORRIE DISEASE 840
» ATROPHIA BULBORUM HEREDITARIA
» PSEUDOGLIOMA
Molecular Tests NDP (NORRIN) NORRIE DISEASE 810
» ATROPHIA BULBORUM HEREDITARIA
» PSEUDOGLIOMA
Molecular Tests NDRG1 (NMYC DOWNSTREAM-REGULATED GENE 1; CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, CMT4D 860
PROTEIN REGULATED BY OXYGEN 1; PROXY1) » NEUROPATHY, HEREDITARY MOTOR AND SENSORY, LOM TYPE (HMSNL)
Molecular Tests NDUFA1 (NADH-UBIQUINONE OXIDOREDUCTASE 1 CYTOCHROME c OXIDASE DEFICIENCY 920

ALPHA SUBCOMPLEX, 1) » COX DEFICIENCY

Molecular Tests NDUFA10 (NADH-UBIQUINONE OXIDOREDUCTASE 1 LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY 1280
ALPHA SUBCOMPLEX, 10)
Molecular Tests NDUFA11 (NADH DEHYDROGENASE 1 ALPHA CYTOCHROME c OXIDASE DEFICIENCY 870
SUBCOMPLEX, 11) » COX DEFICIENCY

Molecular Tests NDUFA13 (NADH-UBIQUINONE OXIDOREDUCTASE 1 THYROID CARCINOMA, HURTHLE CELL 890
ALPHA SUBCOMPLEX, 13)
Molecular Tests NDUFA2 (NADH-UBIQUINONE OXIDOREDUCTASE 1 LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY 840
ALPHA SUBCOMPLEX, 2; B8 PROTEIN)
Molecular Tests NDUFAF1 (NADH DEHYDROGENASE 1 ALPHA CYTOCHROME c OXIDASE DEFICIENCY 800
SUBCOMPLEX, ASSEMBLY FACTOR 1; NADH- » COX DEFICIENCY
UBIQUINONE OXIDOREDUCTASE 1 ALPHA
SUBCOMPLEX, ASSEMBLY FACTOR 1; COMPLEX I » COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
INTERMEDIATE-ASSOCIATED PROTEIN 30; CIA30)
SUBCOMPLEX, ASSEMBLY FACTOR 2; MYC-INDUCED » COX DEFICIENCY
MITOCHONDRIAL PROTEIN; MIMITIN; MMTN)
Molecular Tests NDUFAF2 (NADH DEHYDROGENASE 1 ALPHA LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY 1060
SUBCOMPLEX, ASSEMBLY FACTOR 2; MYC-INDUCED
MITOCHONDRIAL PROTEIN; MIMITIN; MMTN)
SUBCOMPLEX, ASSEMBLY FACTOR 3) » COX DEFICIENCY

SUBCOMPLEX, ASSEMBLY FACTOR 4; HORMONE- » COX DEFICIENCY
REGULATED PROLIFERATION-ASSOCIATED PROTEIN,
20-KD; HRPAP20; C6ORF66) » COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
Molecular Tests NDUFS1 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S CYTOCHROME c OXIDASE DEFICIENCY 1670
PROTEIN 1, COMPLEX 1, MITOCHONDRIAL » COX DEFICIENCY
RESPIRATORY CHAIN, 75-KD SUBUNIT)
PROTEIN 2; COMPLEX I, MITOCHONDRIAL » COX DEFICIENCY
PROTEIN 3, NADH-COENZYME Q REDUCTASE, 30-KD
COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, » COX DEFICIENCY
30-KD SUBUNIT)
Molecular Tests NDUFS3 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S LEIGH SYNDROME 1130

COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN,
30-KD SUBUNIT)
18-KD SUBUNIT, AQDQ)

18-KD SUBUNIT, AQDQ)
PROTEIN 6; COMPLEX I, MITOCHONDRIAL » COX DEFICIENCY
20-KD SUBUNIT, PSST)

20-KD SUBUNIT, PSST)
PROTEIN 8, COMPLEX 1, MITOCHONDRIAL
RESPIRATORY CHAIN, 23-KD SUBUNIT, TYKY) » COX DEFICIENCY
PROTEIN 8, COMPLEX 1, MITOCHONDRIAL
RESPIRATORY CHAIN, 23-KD SUBUNIT, TYKY)
Molecular Tests NDUFV1 (NADH-UBIQUINONE OXIDOREDUCTASE CYTOCHROME c OXIDASE DEFICIENCY 1210
FLAVOPROTEIN 1, COMPLEX 1, MITOCHONDRIAL
RESPIRATORY CHAIN, 51-KD SUBUNIT, UQOR1) » COX DEFICIENCY
Molecular Tests NDUFV1 (NADH-UBIQUINONE OXIDOREDUCTASE LEIGH SYNDROME 1210
FLAVOPROTEIN 1, COMPLEX 1, MITOCHONDRIAL
RESPIRATORY CHAIN, 51-KD SUBUNIT, UQOR1)
Molecular Tests NEB (NEBULIN) NEMALINE MYOPATHY 2, NEM2 760
Molecular Tests NEFL (NEUROFILAMENT PROTEIN, LIGHT CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E, CMT2E 910
POLYPEPTIDE)
Molecular Tests NEFL (NEUROFILAMENT PROTEIN, LIGHT CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F, CMT1F 910
POLYPEPTIDE)
Molecular Tests NEU1 (NEURAMINIDASE 1, SIALIDASE) NEURAMINIDASE DEFICIENCY 960
» SIALIDOSIS, TYPE 2
» SIALIDOSIS, TYPE 1
» MUCOLIPIDOSIS, TYPE 1, ML1
» LIPOMUCOPOLYSACCHARIDOSIS
» SIALIDASE DEFICIENCY
» NEUG DEFICIENCY
» CHERRY RED SPOT--MYOCLONUS SYNDROME
» MYOCLONUS--CHERRY RED SPOT SYNDROME
Molecular Tests NEUROD1 (BETA2) DIABETES MELLITUS, NONINSULIN-DEPENDENT, NIDDM 510
» DIABETES MELLITUS, TYPE 2
» NONINSULIN-DEPENDENT DIABETES MELLITUS
Molecular Tests NEUROD1 (BETA2) MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6, MODY6 510
Molecular Tests NF1 (NEUROFIBROMIN) NEUROFIBROMATOSIS, TYPE 1, NF1 1410
Molecular Tests NF1 (NEUROFIBROMIN) » VON RECKLINGHAUSEN

NEUROFIBROMATOSIS, DISEASE
TYPE 1, NF1 760
Molecular Tests NF2 (NEUROFIBROMIN 2, MERLIN, SCHWANNOMIN) » VON RECKLINGHAUSEN

NEUROFIBROMATOSIS DISEASE
TYPE 2, NF2 1290
» NEUROFIBROMATOSIS, CENTRAL TYPE
» ACOUSTIC SCHWANNOMAS, BILATERAL
Molecular Tests NGFB (NERVE GROWTH FACTOR, BETA SUBUNIT) NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE 5, HSAN5 610
» INSENSITIVITY TO PAIN, CONGENITAL
Molecular Tests NHLRC1 (NHL REPEAT-CONTAINING 1 GENE, EPM2B, MYOCLONIC EPILEPSY OF LAFORA 610
MALIN) » LAFORA DISEASE
» EPILEPSY, PROGRESSIVE MYOCLONIC TYPE 2
Molecular Tests NHS NANCE-HORAN SYNDROME 1310
» CATARACT-DENTAL SYNDROME
» CATARACT, X-LINKED, WITH HUTCHINSONIAN TEETH

Molecular Tests NIPA1 (NONIMPRINTED GENE IN PRADER-WILLI FAMILIAL SPASTIC PARAPLEGIA 6 (AUTOSOMAL DOMINANT), SPG6 1390
SYNDROME/ANGELMAN SYNDROME CHROMOSOME
REGION 1)
Molecular Tests NIPBL CORNELIA DE LANGE SYNDROME 1660
Molecular Tests NIPBL » BRACHMANN-DE

CORNELIA LANGE
DE LANGE SYNDROME
SYNDROME 610
Molecular Tests NKX2E (NK2, DROSOPHILA, HOMOLOG OF, E, NKX2.5, » BRACHMANN-DE LANGE
ATRIOVENTRICULAR SYNDROME
BLOCK, IDIOPATHIC SECOND-DEGREE 1080
CSX)
Molecular Tests NKX2E (NK2, DROSOPHILA, HOMOLOG OF, E, NKX2.5, VARIOUS HEART MALFORMATIONS 1080
CSX)
Molecular Tests NKX2E (NK2, DROSOPHILA, HOMOLOG OF, E, NKX2.5, ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS 1080
CSX)
Molecular Tests NKX2E (NK2, DROSOPHILA, HOMOLOG OF, E, NKX2.5, TETRALOGY OF FALLOT 1080
CSX)
Molecular Tests NLGN3 (NEUROLIGIN 3) AUTISM (X-LINKED) 1350
Molecular Tests NLGN3 (NEUROLIGIN 3) ASPERGER SYNDROME (X-LINKED) 1350
Molecular Tests NLGN3 AND NLGN4 AUTISM (X-LINKED) 2120
Molecular Tests NLGN3 AND NLGN4 ASPERGER SYNDROME (X-LINKED) 2120
Molecular Tests NLGN4 (NEUROLIGIN 4) AUTISM (X-LINKED) 1420
Molecular Tests NLGN4 (NEUROLIGIN 4) ASPERGER SYNDROME (X-LINKED) 1420
Molecular Tests NOG (NOGGIN) STAPES ANKYLOSIS 560
Molecular Tests NOG (NOGGIN) » TEUNISSEN-CREMERS

PROXIMAL SYNDROME
SYMPHALANGISM 560
Molecular Tests NOG (NOGGIN) MULTIPLE SYNOSTOSIS SYNDROME 1 560
Molecular Tests NOG (NOGGIN) TARSAL-CARPAL COALITION SYNDROME 560
Molecular Tests NOTCH1 (NOTCH, DROSOPHILA, HOMOLOG OF, 1) AORTIC VALVE DISEASE 1585
» BICUSPID AORTIC VALVE
» LVOT
Molecular Tests NOTCH2 (NOTCH, DROSOPHILA, HOMOLOG OF, 2) HAJDU-CHENEY SYNDROME 1585
» ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE
» ARTHRODENTOOSTEODYSPLASIA
Molecular Tests NOTCH2 (NOTCH, DROSOPHILA, HOMOLOG OF, 2) ALAGILLE SYNDROME, TYPE 2 1585
Molecular Tests NOTCH3 CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL 810
INFARCTS AND LEUKOENCEPHALOPATHY, CADASIL
Molecular Tests NOTCH3 CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL 1585
INFARCTS AND LEUKOENCEPHALOPATHY, CADASIL
Molecular Tests NPC1 NIEMANN-PICK DISEASE, TYPE C1, NPC1 1810
» NIEMANN-PICK DISEASE, TYPE D

Molecular Tests NPC2 NIEMANN-PICK DISEASE, TYPE C2 710
Molecular Tests NPHP1 (NEPHROCYSTIN 1) NEPHRONOPHTHISIS, TYPE 1 1080
Molecular Tests NPHP1 (NEPHROCYSTIN 1) SENIOR-LOKEN SYNDROME 1080

» RENAL - RETINAL SYNDROME
» JUVENILE NEPHRONOPHTHISIS WITH LEBER AMAUROSIS
» RENAL DYSPLASIA AND RETINAL APLASIA
Molecular Tests NPHP1 (NEPHROCYSTIN 1) JOUBERT SYNDROME, TYPE 4 1080
Molecular Tests NPHP2 (NEPHROCYSTIN 2, INVS, INVERSIN) NEPHRONOPHTHISIS, TYPE 2 1260

» NEPHRONOPHTHISIS, INFANTILE
Molecular Tests NPHP3 (NEPHROCYSTIN 3) NEPHRONOPHTHISIS, TYPE 3 1560
» NEPHRONOPHTHISIS, ADOLESCENT
Molecular Tests NPHP4 (NEPHROCYSTIN 4, NEPHRORETININ) SENIOR-LOKEN SYNDROME 4 1130
Molecular Tests NPHP4 (NEPHROCYSTIN 4, NEPHRORETININ) NEPHRONOPHTHISIS, TYPE 4 1130

» NEPHRONOPHTHISIS, JUVENILE
Molecular Tests NPHS1 (NEPHRIN) NEPHROSIS 1, CONGENITAL, FINNISH TYPE, NPHS1 1460
Molecular Tests NPHS1 (NEPHRIN) » FINNISH CONGENITAL

NEPHROTIC SYNDROME,NEPHROSIS
STEROID-RESISTANT, (AUTOSOMAL RECESSIVE), SRN1 1460
» FAMILIAL FOCAL SEGMENTAL GLOMERULOSCLEROSIS (AUTOSOMAL RECESSIVE)
Molecular Tests NPHS2 (PODOCIN) NEPHROSIS 1, CONGENITAL, FINNISH TYPE, NPHS1 860
Molecular Tests NPHS2 (PODOCIN) » FINNISH CONGENITAL

NEPHROTIC SYNDROME,NEPHROSIS
STEROID-RESISTANT, (AUTOSOMAL RECESSIVE), SRN1 860
» FAMILIAL FOCAL SEGMENTAL GLOMERULOSCLEROSIS (AUTOSOMAL RECESSIVE)
Molecular Tests NPR2 (NATRIURETIC PEPTIDE RECEPTOR ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 980
B/GUANYLATE CYCLASE B, ATRIAL NATRIURETIC » ST. HELENA DYSPLASIA
PEPTIDE RECEPTOR, TYPE B, ANPRB)
Molecular Tests NR2E3 (NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, ENHANCED S-CONE SYNDROME 840
MEMBER 3; PHOTORECEPTOR-SPECIFIC NUCLEAR » GOLDMANN-FAVRE SYNDROME
RECEPTOR; PNR) » RETINOSCHISIS WITH EARLY HEMERALOPIA
» FAVRE HYALOIDEORETINAL DEGENERATION
Molecular Tests NR2E3 (NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, RETINITIS PIGMENTOSA, TYPE 37, RP37 840
MEMBER 3; PHOTORECEPTOR-SPECIFIC NUCLEAR
RECEPTOR; PNR)
Molecular Tests NR3C1 GLUCOCORTICOID RECEPTOR DEFICIENCY 1080
» GLUCOCORTICOID RESISTANCE
» CORTISOL RESISTANCE FROM GLUCOCORTICOID RECEPTOR DEFECT
Molecular Tests NR3C2 (MINERALOCORTICOID RECEPTOR, MLR, MCR, PSEUDOHYPOALDOSTERONISM, TYPE 1 (AUTOSOMAL DOMINANT) 910
MR, ALDOSTERONE RECEPTOR)
Molecular Tests NR3C2 (MINERALOCORTICOID RECEPTOR, MLR, MCR, HYPERTENSION, EARLY-ONSET (AUTOSOMAL DOMINANT) 910
MR, ALDOSTERONE RECEPTOR)
Molecular Tests NR5A1 (NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, ADRENOCORTICAL INSUFFICIENCY 1010
MEMBER 1; STEROIDOGENIC FACTOR 1; SF1)
Molecular Tests NR5A1 (NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, PREMATURE OVARIAN FAILURE 7, POF7 1010
MEMBER 1; STEROIDOGENIC FACTOR 1; SF1)
Molecular Tests NR5A1 (NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, 46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, WITH OR WITHOUT 1010
MEMBER 1; STEROIDOGENIC FACTOR 1; SF1) ADRENAL FAILURE
Molecular Tests NRAS (NEUROBLASTOMA RAS VIRAL ONCOGENE AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 4, ALPS4 1290
HOMOLOG)
Molecular Tests NRAS (NEUROBLASTOMA RAS VIRAL ONCOGENE NOONAN SYNDROME, TYPE 6 1290
HOMOLOG)
Molecular Tests NRL (NEURAL RETINA LEUCINE ZIPPER; NEURAL RETINAL DEGENERATION (AUTOSOMAL RECESSIVE), CLUMPED PIGMENT TYPE 750
RETINA-SPECIFIC GENE)
Molecular Tests NRL (NEURAL RETINA LEUCINE ZIPPER; NEURAL RETINITIS PIGMENTOSA, TYPE 27, RP27 750
RETINA-SPECIFIC GENE)
Molecular Tests NRXN1 (NEUREXIN 1) PITT-HOPKINS-LIKE SYNDROME, TYPE 2 1780
Molecular Tests NSD1 CEREBRAL GIGANTISM 1260
Molecular Tests NSDHL (NAD(P)H STEROID DEHYDROGENASE-LIKE » SOTOS

CHILD SYNDROME
SYNDROME 1700
PROTEIN) » CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND
LIMB DEFECTS
» ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL
MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS
Molecular Tests NTRK1 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CIPA 1310
» NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS
» HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY 4, HSAN4

Molecular Tests NUBPL (NUCLEOTIDE-BINDING PROTEIN-LIKE CYTOCHROME c OXIDASE DEFICIENCY 1370
PROTEIN; IRON-SULFUR PROTEIN REQUIRED FOR » COX DEFICIENCY
NADH DEHYDROGENASE; IND1)
Molecular Tests NYX (NYCTALOPIN) NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A 840
» HEMERALOPIA-MYOPIA
» MYOPIA-NIGHT BLINDNESS
» NYCTALOPIA
Molecular Tests OCA2 (P gene) OCULOCUTANEOUS ALBINISM, TYPE 2, OCA2 (TYROSINASE - POSITIVE) 1130
» PINK-EYED DILUTION
Molecular Tests OCA2 (P gene) OCULOCUTANEOUS ALBINISM, TYPE 2, OCA2 (TYROSINASE - POSITIVE) 740
» PINK-EYED DILUTION
Molecular Tests OCRL1 DENT NEPHROCALCINOSIS 1200
Molecular Tests OCRL1 LOWE OCULOCEREBRORENAL SYNDROME, OCRL 1200
Molecular Tests OCRL1 DENT NEPHROCALCINOSIS 1000
Molecular Tests OCRL1 LOWE OCULOCEREBRORENAL SYNDROME, OCRL 1000
Molecular Tests OFD1 (CHROMOSOME X OPEN READING FRAME 5; SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 2300
CXORF5)
Molecular Tests OFD1 (CHROMOSOME X OPEN READING FRAME 5; OROFACIODIGITAL SYNDROME, TYPE 1 2300
CXORF5) » OFD SYNDROME, TYPE 1
» PAPILLON-LEAGUE-PSAUME SYNDROME
Molecular Tests OPA1 OPTIC ATROPHY 1 1160
» OPTIC ATROPHY, JUVENILE
» KJER TYPE OPTIC ATROPHY

Molecular Tests OPA3 OPTIC ATROPHY, TYPE 3, OPA3 (AUTOSOMAL DOMINANT) 920
Molecular Tests OPA3 OPTIC ATROPHY, TYPE 3, OPA3 (AUTOSOMAL RECESSIVE) 920
OPTIC ATROPHY PLUS SYNDROME
COSTEFF SYNDROME
3-@METHYLGLUTACONIC ACIDURIA, TYPE 3
Molecular Tests OPHN1 (OLIGOPHRENIN 1, OPN1) MENTAL RETARDATION WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE 2300
FACIAL APPEARANCE (X-LINKED)
» MENTAL RETARDATION (X-LINKED), TYPE 60, MRX60
Molecular Tests OPTN (OPTINEURIN) GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, POAG 1000
Molecular Tests OPTN (OPTINEURIN) AMYOTROPHIC LATERAL SCLEROSIS, TYPE 12, ALS12 1000
Molecular Tests OTC (ORNITHINE CARBAMOYL TRANSFERASE GENE) ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY 1120
Molecular Tests OTC (ORNITHINE CARBAMOYL TRANSFERASE GENE) ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY 990
Molecular Tests OTOF (OTOFERLIN) DEAFNESS, DFNB9 1990

» AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, TYPE 1
Molecular Tests OTX2 (ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, MICROPHTHALMIA, SYNDROMIC, TYPE 5, MCOPS5 790
2) » RETINAL DYSTROPHY, EARLY-ONSET, AND PITUITARY DYSFUNCTION
Molecular Tests OTX2 (ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, PITUITARY HORMONE DEFICIENCY, COMBINED, TYPE 6, CPHD6 790
2)
Molecular Tests P53 (TP53) BREAST CANCER, FAMILIAL 860
Molecular Tests P53 (TP53) BREAST CANCER, FAMILIAL 760
Molecular Tests P53 (TP53) LI-FRAUMENI SYNDROME 1 860
Molecular Tests P53 (TP53) LI-FRAUMENI SYNDROME 1 760
Molecular Tests P53 (TP53) PEDIATRIC ADRENOCORTICAL CARCINOMA 860
Molecular Tests P53 (TP53) PEDIATRIC ADRENOCORTICAL CARCINOMA 760
Molecular Tests P53 (TP53) OSTEOSARCOMA 860
Molecular Tests P53 (TP53) OSTEOSARCOMA 760
Molecular Tests PABPN1 (PAB2, POLYA BINDING PROTEIN) OCULOPHARYNGEAL MUSCULAR DYSTROPHY (AUTOSOMAL DOMINANT) 510
» MUSCULAR DYSTROPHY, OCULOPHARYNGEAL MUSCULAR DYSTROPHY

Molecular Tests PABPN1 (PAB2, POLYA BINDING PROTEIN) OCULOPHARYNGEAL MUSCULAR DYSTROPHY (AUTOSOMAL RECESSIVE) 510
» MUSCULAR DYSTROPHY, OCULOPHARYNGEAL MUSCULAR DYSTROPHY

Molecular Tests PAFAH1B1 (LIS1) MILLER-DIEKER LISSENCEPHALY SYNDROME, MDLS 1410
Molecular Tests PAFAH1B1 (LIS1) MILLER-DIEKER LISSENCEPHALY SYNDROME, MDLS 760
Molecular Tests PAFAH1B1 (LIS1) LISSENCEPHALY 1, LIS1 1410
» SUBCORTICAL LAMINAR HETEROTOPIA

Molecular Tests PAFAH1B1 (LIS1) LISSENCEPHALY 1, LIS1 760
» SUBCORTICAL LAMINAR HETEROTOPIA
Molecular Tests PAH (PHENYLALANINE HYDROXYLASE) PHENYLKETONURIA, PKU 1260
» HYPERPHENYLALANINEMIA
Molecular Tests PALB2 (PARTNER AND LOCALIZER OF BRCA2; FANCN) BREAST CANCER 1190
Molecular Tests PALB2 (PARTNER AND LOCALIZER OF BRCA2; FANCN) FANCONI ANEMIA, COMPLEMENTATION GROUP N, FANCN 1190
Molecular Tests PALB2 (PARTNER AND LOCALIZER OF BRCA2; FANCN) PANCREATIC CANCER, SUSCEPTIBILITY TO, TYPE 3 1190
Molecular Tests PANK2 (PANTOTHENATE KINASE 2) HALLERVORDEN-SPATZ DISEASE 810
» PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION, PKAN

Molecular Tests PANK2 (PANTOTHENATE KINASE 2) HARP SYNDROME (HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS 810
PIGMENTOSA, AND PALLIDAL DEGENERATION)
Molecular Tests PARKIN (PARK2) PARKINSON DISEASE, TYPE 2, PARK2 (AUTOSOMAL RECESSIVE) 1150
Molecular Tests PARKIN (PARK2) PARKINSON DISEASE, TYPE 2, PARK2 (AUTOSOMAL RECESSIVE) 1150
Molecular Tests PAX2 (PAIRED BOX GENE 2) RENAL-COLOBOMA SYNDROME 1690
Molecular Tests PAX2 (PAIRED BOX GENE 2) » PAPILLORENAL

RENAL SYNDROME
HYPOPLASIA 1690
Molecular Tests PAX3 (PAIRED BOX GENE 3) WAARDENBURG SYNDROME, TYPE 3, WS3 1040
Molecular Tests PAX3 (PAIRED BOX GENE 3) » KLEIN-WAARDENBURG

WAARDENBURG SYNDROME
SYNDROME, TYPE 1, WS1 1040
Molecular Tests PAX3 (PAIRED BOX GENE 3) WAARDENBURG SYNDROME, TYPE 1, WS1 860
Molecular Tests PAX4 (PAIRED BOX GENE 4) MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9, MODY9 860
Molecular Tests PAX4 (PAIRED BOX GENE 4) DIABETES MELLITUS, KETOSIS-PRONE 860
Molecular Tests PAX6 (PAIRED BOX GENE 6) CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY 660
Molecular Tests PAX6 (PAIRED BOX GENE 6) CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY 890
Molecular Tests PAX6 (PAIRED BOX GENE 6) ANIRIDIA, TYPE 2, AN2 610
Molecular Tests PAX6 (PAIRED BOX GENE 6) ANIRIDIA, TYPE 2, AN2 890
Molecular Tests PAX6 (PAIRED BOX GENE 6) ECTOPIA PUPILLAE 610
Molecular Tests PAX6 (PAIRED BOX GENE 6) ECTOPIA PUPILLAE 890
Molecular Tests PAX6 (PAIRED BOX GENE 6) FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME 610
Molecular Tests PAX6 (PAIRED BOX GENE 6) FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME 890
Molecular Tests PAX6 (PAIRED BOX GENE 6) KERATITIS 610
Molecular Tests PAX6 (PAIRED BOX GENE 6) KERATITIS 890
Molecular Tests PAX6 (PAIRED BOX GENE 6) PETERS ANOMALY 610
Molecular Tests PAX6 (PAIRED BOX GENE 6) PETERS ANOMALY 890
Molecular Tests PAX8 (PAIRED BOX GENE 8) HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, TYPE 2 1620
» THYROID DYSGENESIS
» THYROID AGENESIS
» THYROID HYPOPLASIA
» THYROID, ECTOPIC
» HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS
» HYPOTHYROIDISM, ATHYREOTIC
» THYROTROPIN RESISTANCE
Molecular Tests PAX9 (PAIRED BOX GENE 9) HYPODONTIA/OLIGODONTIA, TYPE 3 710

» TOOTH AGENESIS, SELECTIVE, TYPE 3
Molecular Tests PC (PYRUVATE CARBOXYLASE) PYRUVATE CARBOXYLASE DEFICIENCY 1960
» LEIGH NECROTIZING ENCEPHALOPATHY DUE TO PYRUVATE CARBOXYLASE
DEFICIENCY
» ATAXIA WITH LACTIC ACIDOSIS, TYPE 2
Molecular Tests PCCA (PROPIONYL-CoA CARBOXYLASE, ALPHA PROPIONIC ACIDEMIA 1610

SUBUNIT) » PROPIONYL-CoA CARBOXYLASE DEFICIENCY
» GLYCINEMIA, KETOTIC
» HYPERGLYCINEMIA WITH KETOACIDOSIS AND LEUKOPENIA
» KETOTIC HYPERGLYCINEMIA
Molecular Tests PCCB (PROPIONYL-CoA CARBOXYLASE, BETA PROPIONIC ACIDEMIA 1180

SUBUNIT) » PROPIONYL-CoA CARBOXYLASE DEFICIENCY
» GLYCINEMIA, KETOTIC
» HYPERGLYCINEMIA WITH KETOACIDOSIS AND LEUKOPENIA
» KETOTIC HYPERGLYCINEMIA
Molecular Tests PCDH19 (PROTOCADHERIN 19; KIAA1313) EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, TYPE 9, EIEE9 1850
» JUBERG-HELLMAN SYNDROME
» EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION
Molecular Tests PCNT (PERICENTRIN; KENDRIN) MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 2, MOPD2 2660
Molecular Tests PCNT (PERICENTRIN; KENDRIN) MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 2, MOPD2 1080
Molecular Tests PCSK9 (PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN- HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE 3, HCHOLA3 1010
TYPE, 9; NEURAL APOPTOSIS-REGULATED » LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1
CONVERTASE 1; NARC1)
Molecular Tests PDCD10 (PROGRAMMED CELL DEATH 10) CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 3 2010
Molecular Tests PDE6A (PHOSPHODIESTERASE 6A, cGMP-SPECIFIC, RETINITIS PIGMENTOSA, TYPE 43, RP43 1080
ROD, ALPHA; RETINAL ROD PHOTORECEPTOR cGMP
PHOSPHODIESTERASE, ALPHA SUBUNIT)
Molecular Tests PDE6B (PHOSPHODIESTERASE 6B, cGMP-SPECIFIC, ROD, NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2 (AUTOSOMAL DOMINANT) 1130
BETA; RETINAL ROD PHOTORECEPTOR cGMP » NIGHT BLINDNESS, CONGENITAL STATIONARY, RAMBUSCH TYPE
PHOSPHODIESTERASE, BETA SUBUNIT; RD, MOUSE,
HOMOLOG OF)
Molecular Tests PDE6B (PHOSPHODIESTERASE 6B, cGMP-SPECIFIC, ROD, RETINITIS PIGMENTOSA, TYPE 40, RP40 1130
BETA; RETINAL ROD PHOTORECEPTOR cGMP
PHOSPHODIESTERASE, BETA SUBUNIT; RD, MOUSE,
HOMOLOG OF)
Molecular Tests PDE6C (PHOSPHODIESTERASE 6C, cGMP-SPECIFIC, ACHROMATOPSIA, TYPE 5 1200

CONE, ALPHA-PRIME; PDEA2) » CONE DYSTROPHY, TYPE 4
Molecular Tests PDE6G (PHOSPHODIESTERASE 6G, cGMP-SPECIFIC, RETINITIS PIGMENTOSA, TYPE 57, RP57 750
ROD, GAMMA; RETINAL ROD PHOTORECEPTOR cGMP
PHOSPHODIESTERASE, GAMMA SUBUNIT)
Molecular Tests PDHA1 (PYRUVATE DEHYDROGENASE COMPLEX, E1- CYTOCHROME c OXIDASE DEFICIENCY 1650
ALPHA POLYPEPTIDE 1)
» COX DEFICIENCY
Molecular Tests PDHA1 (PYRUVATE DEHYDROGENASE COMPLEX, E1- LEIGH SYNDROME 1650
Molecular Tests PDHA1 (PYRUVATE DEHYDROGENASE COMPLEX, E1- PYRUVATE DECARBOXYLASE DEFICIENCY 1650
» ATAXIA, INTERMITTENT, WITH ABNORMAL PYRUVATE METABOLISM
» PYRUVATE DEHYDROGENASE DEFICIENCY
» PDH DEFICIENCY
» ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE, OR

DECARBOXYLASE, DEFICIENCY
Molecular Tests PDHB (PYRUVATE DEHYDROGENASE, BETA PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY 1370
POLYPEPTIDE)
Molecular Tests PDHX (PYRUVATE DEHYDROGENASE COMPLEX, PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY 2700
COMPONENT X; PYRUVATE DEHYDROGENASE » LACTIC ACIDEMIA DUE TO DEFECT IN LIPOYL-CONTAINING COMPONENT X OF
COMPLEX, E3-BINDING PROTEIN SUBUNIT; E3BP; PDX1) THE PYRUVATE DEHYDROGENASE COMPLEX
Molecular Tests PDP1 (PYRUVATE DEHYDROGENASE PHOSPHATASE PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY 890
CATALYTIC SUBUNIT 1; PROTEIN PHOSPHATASE, » LACTIC ACIDEMIA WITH PYRUVATE DEHYDROGENASE PHOSPHATASE
MAGNESIUM-DEPENDENT) DEFICIENCY
Molecular Tests PDSS1 (PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 1) COENZYME Q10 DEFICIENCY 1110
Molecular Tests PDSS2 (PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 2) COENZYME Q10 DEFICIENCY 960
Molecular Tests PDX1 (PANCREAS / DUODENUM HOMEOBOX PROTEIN PANCREATIC AGENESIS, CONGENITAL 510
1; INSULIN PROMOTER FACTOR 1; IPF1; » PANCREATIC HYPOPLASIA, CONGENITAL
HOMEODOMAIN TRANSCRIPTION FACTOR IPF1;
SOMATOSTATIN TRANSCRIPTION FACTOR 1; STF1)
Molecular Tests PDX1 (PANCREAS / DUODENUM HOMEOBOX PROTEIN MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4, MODY4 510
1; INSULIN PROMOTER FACTOR 1; IPF1;
HOMEODOMAIN TRANSCRIPTION FACTOR IPF1;
SOMATOSTATIN TRANSCRIPTION FACTOR 1; STF1)
Molecular Tests PEX1 (PEROXISOME BIOGENESIS FACTOR 1) ADRENOLEUKODYSTROPH, AUTOSOMAL NEONATAL FORM, NALD 1410
Molecular Tests PEX1 (PEROXISOME BIOGENESIS FACTOR 1) ADRENOLEUKODYSTROPH, AUTOSOMAL NEONATAL FORM, NALD 910
Molecular Tests PEX1 (PEROXISOME BIOGENESIS FACTOR 1) ZELLWEGER SYNDROME 1410

» CEREBROHEPATORENAL SYNDROME
Molecular Tests PEX1 (PEROXISOME BIOGENESIS FACTOR 1) ZELLWEGER SYNDROME 910
Molecular Tests PEX1 (PEROXISOME BIOGENESIS FACTOR 1) REFSUM DISEASE, INFANTILE FORM 1410
» INFANTILE PHYTANIC ACID STORAGE DISEASE
Molecular Tests PEX1 (PEROXISOME BIOGENESIS FACTOR 1) REFSUM DISEASE, INFANTILE FORM 910
Molecular Tests PEX1, PEX6, PEX10, PEX12 and PEX26 ADRENOLEUKODYSTROPH, AUTOSOMAL NEONATAL FORM, NALD 1010
Molecular Tests PEX1, PEX6, PEX10, PEX12 and PEX26 ZELLWEGER SYNDROME 1010
Molecular Tests PEX1, PEX6, PEX10, PEX12 and PEX26 REFSUM DISEASE, INFANTILE FORM 1010
Molecular Tests PEX2, PEX10, PEX12 and PEX26 ADRENOLEUKODYSTROPH, AUTOSOMAL NEONATAL FORM, NALD 1750
Molecular Tests PEX2, PEX10, PEX12 and PEX26 ZELLWEGER SYNDROME 1750
Molecular Tests PEX2, PEX10, PEX12 and PEX26 REFSUM DISEASE, INFANTILE FORM 1750
Molecular Tests PEX6, PEX10, PEX12 and PEX26 ADRENOLEUKODYSTROPH, AUTOSOMAL NEONATAL FORM, NALD 2210
Molecular Tests PEX6, PEX10, PEX12 and PEX26 ZELLWEGER SYNDROME 2210
Molecular Tests PEX6, PEX10, PEX12 and PEX26 REFSUM DISEASE, INFANTILE FORM 2210
Molecular Tests PEX7 (PEROXISOME BIOGENESIS FACTOR 7) RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 1055
» CHONDRODYSTROPHIA CALCIFICANS PUNCTATA
Molecular Tests PEX7 (PEROXISOME BIOGENESIS FACTOR 7) REFSUM DISEASE 1055
» PHYTANIC ACID OXIDASE DEFICIENCY
» HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 4, HMSN4
Molecular Tests PFKM (PHOSPHOFRUCTOKINASE, MUSCLE TYPE) GLYCOGEN STORAGE DISEASE, TYPE 7 1460
» GSD TYPE 7
» TARUI DISEASE
» MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY
Molecular Tests PGAM2 (PHOSPHOGLYCERATE MUTASE 2) GLYCOGEN STORAGE DISEASE, TYPE 10 810
» PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF
» PGAMM DEFICIENCY
Molecular Tests PHEX HYPOPHOSPHATEMIC RICKETS (X-LINKED) 1210
» VITAMIN D-RESISTANT RICKETS (X-LINKED)

Molecular Tests PHEX HYPOPHOSPHATEMIC RICKETS (X-LINKED) 610
» VITAMIN D-RESISTANT RICKETS (X-LINKED)

Molecular Tests PHF6 (PHD FINGER PROTEIN 6) BORJESON-FORSSMAN-LEHMANN SYNDROME 1270
Molecular Tests PHKA1 (PHOSPHORYLASE KINASE, MUSCLE, ALPHA-1 GLYCOGEN STORAGE DISEASE, TYPE 9D 2000
SUBUNIT) » GSD TYPE 9D
» MUSCLE PHOSPHORYLASE KINASE DEFICIENCY
» MUSCLE GLYCOGENOSIS (X-LINKED)
Molecular Tests PHKA2 (PHOSPHORYLASE KINASE, MUSCLE, ALPHA-2 GLYCOGEN STORAGE DISEASE, TYPE 9A 2000
SUBUNIT) » GSD TYPE 9A
» LIVER PHOSPHORYLASE KINASE DEFICIENCY
» LIVER GLYCOGENOSIS (X-LINKED)
» GLYCOGEN STORAGE DISEASE, TYPE 8
» GSD TYPE 8
Molecular Tests PHKB (PHOSPHORYLASE KINASE, BETA SUBUNIT) GLYCOGEN STORAGE DISEASE, TYPE 9B 2000
» PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE (AUTOSOMAL
RECESSIVE)
Molecular Tests PHKG2 (PHOSPHORYLASE KINASE, TESTIS/LIVER, GLYCOGEN STORAGE DISEASE, TYPE 9C 890
GAMMA-2) » GSD TYPE 9C
» GLYCOGENOSIS, HEPATIC (AUTOSOMAL RECESSIVE)
Molecular Tests PHKG2 (PHOSPHORYLASE KINASE, TESTIS/LIVER, CIRRHOSIS DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY 890
GAMMA-2)
Molecular Tests PHOX2B HIRSCHSPRUNG DISEASE WITH NEUROBLASTOMA 810
Molecular Tests PHOX2B CONGENITAL CENTRAL HYPOVENTILATION SYNDROME 810
» ONDINE CURSE
» ONDINE-HIRSCHSPRUNG DISEASE
Molecular Tests PHYH (PHYTANOYL-CoA HYDROXYLASE) REFSUM DISEASE 1160
» PHYTANIC ACID OXIDASE DEFICIENCY
» HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 4, HMSN4
Molecular Tests PIGG (PHOSPHATIDYLINOSITOL GLYCAN ANCHOR MENTAL RETARDATION (AUTOSOMAL RECESSIVE), TYPE 53, MRT53 1460
BIOSYNTHESIS CLASS G PROTEIN; GP17) » GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT, TYPE 13
Molecular Tests PIGG (PHOSPHATIDYLINOSITOL GLYCAN ANCHOR MENTAL RETARDATION (AUTOSOMAL RECESSIVE), TYPE 53, MRT53 1660
BIOSYNTHESIS CLASS G PROTEIN; GP17) » GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT, TYPE 13
Molecular Tests PIGL (PHOSPHATIDYLINOSITOL GLYCAN, CLASS L) CHIME SYNDROME 1630

» ZUNICH NEUROECTODERMAL SYNDROME
» COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS,
MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
Molecular Tests PINK1 PARKINSON DISEASE, TYPE 6, PARK6 (AUTOSOMAL RECESSIVE) 1030
PARKINSON DISEASE, TYPE 6, PARK6 (AUTOSOMAL RECESSIVE)
Molecular Tests PINK1 PARKINSON DISEASE, TYPE 6, PARK6 (AUTOSOMAL RECESSIVE) 1030
Molecular Tests PITPNM3 (PHOSPHATIDYLINOSITOL TRANSFER PARKINSON DISEASE, TYPE

CONE-ROD DYSTROPHY, 6, PARK6
TYPE (AUTOSOMAL RECESSIVE)
5, CORD5 1080
PROTEIN, MEMBRANE-ASSOCIATED, 3; PYK2 N-
TERMINAL DOMAIN-INTERACTING RECEPTOR 1; NIR1)
Molecular Tests PITX2 (PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION IRIDOGONIODYSGENESIS SYNDROME, TYPE 2, IRID2 1150
FACTOR 2, PTX2)
» IRIS HYPOPLASIA WITH EARLY-ONSET GLAUCOMA (AUTOSOMAL DOMINANT),
IHGA
Molecular Tests PITX2 (PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION IRIDOGONIODYSGENESIS SYNDROME, TYPE 2, IRID2 990
FACTOR 2, PTX2)
» IRIS HYPOPLASIA WITH EARLY-ONSET GLAUCOMA (AUTOSOMAL DOMINANT),
IHGA
Molecular Tests PITX2 (PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION RIEGER SYNDROME, TYPE 1, RIEG1 1150
FACTOR 2, PTX2)
Molecular Tests PITX2 (PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION » AXENFELD-RIEGER
RIEGER SYNDROME
SYNDROME, TYPE 1, RIEG1 990
FACTOR 2, PTX2)
Molecular Tests PITX2 (PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION » AXENFELD-RIEGER
PETERS ANOMALY SYNDROME 1150
FACTOR 2, PTX2)
Molecular Tests PITX2 (PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION PETERS ANOMALY 990
FACTOR 2, PTX2)
Molecular Tests PKD1 (POLYCYSTIN 1) and PKD2 (POLYCYSTIN 2) POLYCYSTIC KIDNEY DISEASE (AUTOSOMAL DOMINANT), PKD, ADPKD 4900
Molecular Tests PKD1 (POLYCYSTIN 1) and PKD2 (POLYCYSTIN 2) POLYCYSTIC KIDNEY DISEASE (AUTOSOMAL DOMINANT), PKD, ADPKD 760
Molecular Tests PKHD1 (FIBROCYSTIN, POLYDUCTIN) POLYCYSTIC KIDNEY DISEASE (AUTOSOMAL RECESSIVE), ARPKD 760
» POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE 1
» POLYCYSTIC KIDNEY AND HEPATIC DISEASE

Molecular Tests PKHD1 (FIBROCYSTIN, POLYDUCTIN) POLYCYSTIC KIDNEY DISEASE (AUTOSOMAL RECESSIVE), ARPKD 1860
» POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE 1
» POLYCYSTIC KIDNEY AND HEPATIC DISEASE

Molecular Tests PKP2 (PLAKOPHILIN 2) ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 9, ARVD9 1690
Molecular Tests PKP2, DSP, DSG2, DSC2 PANEL ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL 2180
Molecular Tests PLA2G6 (PHOSPHOLIPASE A2, GROUP 6) HALLERVORDEN-SPATZ DISEASE 1910

» PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION, PKAN
Molecular Tests PLA2G6 (PHOSPHOLIPASE A2, GROUP 6) NEUROAXONAL DYSTROPHY, INFANTILE (INAD) 1910
Molecular Tests PLA2G6 (PHOSPHOLIPASE A2, GROUP 6) KARAK SYNDROME 1910
Molecular Tests PLA2G6 (PHOSPHOLIPASE A2, GROUP 6) NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED 1910
Molecular Tests PLCE1 (PHOSPHOLIPASE C, EPSILON-1) NEPHROTIC SYNDROME, TYPE 3 1510
Molecular Tests PLEC1 (PLECTIN 1) EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE 2810
Molecular Tests PLEC1 (PLECTIN 1) » EPIDERMOLYSIS

MUSCULAR BULLOSA
DYSTROPHY, SIMPLEX 1, EBS1
LIMB-GIRDLE, WITH EPIDERMOLYSIS BULLOSA SIMPLEX 2810
Molecular Tests PLEKHG4 (PLECKSTRIN HOMOLOGY DOMAIN- SPINOCEREBELLAR ATAXIA, 16q22-LINKED 2010
CONTAINING PROTEIN, FAMILY G, MEMBER 4;
PURATROPHIN 1)
Molecular Tests PLEKHG4 (PLECKSTRIN HOMOLOGY DOMAIN- SPINOCEREBELLAR ATAXIA, 16q22-LINKED 510
CONTAINING PROTEIN, FAMILY G, MEMBER 4;
PURATROPHIN 1)
Molecular Tests PLN (PHOSPHOLAMBAN) CARDIOMYOPATHY, DILATED, TYPE 1P 650
Molecular Tests PLOD1 (PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5- EHLERS-DANLOS TYPE 6, EDS6 910

DIOXYGENASE; LYSYL HYDROXYLASE) » EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE
Molecular Tests PLOD1 (PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5- EHLERS-DANLOS TYPE 6, EDS6 610

DIOXYGENASE; LYSYL HYDROXYLASE) » EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE
Molecular Tests PLOD2 (PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5- BRUCK SYNDROME, TYPE 2 1510

DIOXYGENASE 2; LYSINE HYDROXYLASE 2)
Molecular Tests PLP1 (PROTEOLIPID PROTEIN 1, PLP) PELIZAEUS-MERZBACHER DISEASE, PMD 1020
Molecular Tests PLP1 (PROTEOLIPID PROTEIN 1, PLP) PELIZAEUS-MERZBACHER DISEASE, PMD 770
Molecular Tests PLP1 (PROTEOLIPID PROTEIN 1, PLP) FAMILIAL SPASTIC PARAPLEGIA 2 ( X-LINKED), SPG2 1020
Molecular Tests PLP1 (PROTEOLIPID PROTEIN 1, PLP) FAMILIAL SPASTIC PARAPLEGIA 2 ( X-LINKED), SPG2 770
Molecular Tests PMM2 (PHOSPHOMANNOMUTASE 2) CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1A, CDG1A 880
» JAEKEN SYNDROME
» CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE 1A
» PHOSPHOMANNOMUTASE 2 DEFICIENCY
Molecular Tests PMP22 (PERIPHERAL MYELIN PROTEIN) CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A, CMT1A 910
Molecular Tests PMP22 (PERIPHERAL MYELIN PROTEIN) CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A, CMT1A 760
Molecular Tests PMP22 (PERIPHERAL MYELIN PROTEIN) CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS 910
Molecular Tests PMP22 (PERIPHERAL MYELIN PROTEIN) CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS 760
Molecular Tests PMP22 (PERIPHERAL MYELIN PROTEIN) CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F, CMT4F 910
Molecular Tests PMP22 (PERIPHERAL MYELIN PROTEIN) HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES, HNPP 910
Molecular Tests PMP22 (PERIPHERAL MYELIN PROTEIN) HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES, HNPP 760
Molecular Tests PMS2 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC, TYPE 2 1270
Molecular Tests PMS2 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC, TYPE 1 1270
Molecular Tests PMS2 MISMATCH REPAIR CANCER SYNDROME 1270
» TURCOT SYNDROME BRAIN TUMOR
» POLYPOSIS SYNDROME 1
» MMR DEFICIENCY
» MISMATCH REPAIR DEFICIENCY
Molecular Tests PNKP (POLYNUCLEOTIDE KINASE 3-PRIME EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, TYPE 10, EIEE10 2000
PHOSPHATASE; DNA KINASE)
Molecular Tests PNPO (PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE, PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY 930
PYRIDOXAMINE-PHOSPHATE OXIDASE) » PNPO DEFICIENCY
» EPILEPTIC ENCEPHALOPATHY, NEONATAL, PNPO-RELATED
Molecular Tests POLG (POLYMERASE, DNA, GAMMA) PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA 1160
DELETIONS (AUTOSOMAL DOMINANT), TYPE 1
» PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA (AUTOSOMAL DOMINANT), 1
» PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM
Molecular Tests POLG (POLYMERASE, DNA, GAMMA) ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC 1160
CIRRHOSIS
» ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY
» ALPERS SYNDROME
» ALPERS-HUTTENLOCHER SYNDROME
Molecular Tests POLG (POLYMERASE, DNA, GAMMA) PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA 1160
DELETIONS (AUTOSOMAL RECESSIVE)
» SPINOCEREBELLAR ATAXIA WITH EPILEPSY
Molecular Tests POLG (POLYMERASE, DNA, GAMMA) SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, SANDO 1160
» SPINOCEREBELLAR ATAXIA WITH EPILEPSY

Molecular Tests POLG2 (POLYMERASE, DNA, GAMMA-2; POLGB) PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA 960
DELETIONS (AUTOSOMAL DOMINANT), TYPE 4
Molecular Tests POLR3A (POLYMERASE III, RNA, SUBUNIT A; RNA LEUKODYSTROPHY, HYPOMYELINATING, TYPE 7, WITH OR WITHOUT OLIGODONTIA 2180
POLYMERASE III, SUBUNIT C1) AND/OR HYPOGONADOTROPIC HYPOGONADISM
» ATAXIA, DELAYED DENTITION, AND HYPOMYELINATION
» 4H SYNDROME
Molecular Tests POLR3B (POLYMERASE III, RNA, SUBUNIT B) LEUKODYSTROPHY, HYPOMYELINATING, TYPE 8, WITH OR WITHOUT OLIGODONTIA 2180
AND/OR HYPOGONADOTROPIC HYPOGONADISM
Molecular Tests POMC (PROOPIOMELANOCORTIN) PROOPIOMELANOCORTIN DEFICIENCY 710
» OBESITY, EARLY-ONSET, ADRENAL INSUFFICIENCY, AND RED HAIR
Molecular Tests POMGNT1 (PROTEIN O-MANNOSE BETA-1,2-N- MUSCLE-EYE-BRAIN DISEASE 1780
ACETYLGLUCOSAMINYLTRANSFERASE)
Molecular Tests POMT1 (PROTEIN O-MANNOSYLTRANSFERASE 1) WALKER-WARBURG SYNDROME 1800
» HARD SYNDROME
» PAGON SYNDROME
Molecular Tests POMT1 (PROTEIN O-MANNOSYLTRANSFERASE 1) MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K, LGMD2K 1800
Molecular Tests POMT2 (PROTEIN O-MANNOSYLTRANSFERASE 2) WALKER-WARBURG SYNDROME 1800

» HARD SYNDROME
» PAGON SYNDROME
Molecular Tests PORCN (PORCUPINE, DROSOPHILA, HOMOLOG OF) FOCAL DERMAL HYPOPLASIA 1770
» GOLTZ SYNDROME
» GOLTZ-GORLIN SYNDROME
Molecular Tests POU1F1 (POU DOMAIN, CLASS 1, TRANSCRIPTION PITUITARY HORMONE DEFICIENCY, COMBINED 960
FACTOR 1, GROWTH HORMONE FACTOR 1, PIT1)
Molecular Tests POU3F4 (POU DOMAIN, CLASS 3, TRANSCRIPTION DEAFNESS, CONDUCTIVE, WITH STAPES FIXATION, DFN3 560
FACTOR 4) » PERILYMPHATIC GUSHER-DEAFNESS SYNDROME
Molecular Tests PPARG (PEROXISOME PROLIFERATOR-ACTIVATED DIABETES MELLITUS, NONINSULIN-DEPENDENT, NIDDM 810
RECEPTOR-GAMMA, PPARG1, PPARG2, PPARG3, » DIABETES MELLITUS, TYPE 2
PAX8/PPARG FUSION GENE) » NONINSULIN-DEPENDENT DIABETES MELLITUS
» MATURITY-ONSET DIABETES
» INSULIN RESISTANCE, SUSCEPTIBILITY TO
Molecular Tests PPARG (PEROXISOME PROLIFERATOR-ACTIVATED OBESITY 810

RECEPTOR-GAMMA, PPARG1, PPARG2, PPARG3,
PAX8/PPARG FUSION GENE)
Molecular Tests PPIB (PEPTIDYL-PROLYL ISOMERASE B; CYCLOPHILIN OSTEOGENESIS IMPERFECTA TYPE 9, OI9 860
B; CYPB) » OSTEOGENESIS IMPERFECTA, SILLENCE TYPE II/III, WITHOUT ABNORMALITY OF
TYPE I COLLAGEN
Molecular Tests PPOX (PROTOPORPHYRINOGEN OXIDASE) PORPHYRIA VARIEGATA 1120
» PROTOPORPHYRINOGEN OXIDASE DEFICIENCY
» PORPHYRIA, SOUTH AFRICAN TYPE
Molecular Tests PPP2R2B (PROTEIN PHOSPHATASE 2, REGULATORY SPINOCEREBELLAR ATAXIA 12, SCA12 460
SUBUNIT B, BETA)
Molecular Tests PPT1 (PALMITOYL-PROTEIN THIOESTERASE) CEROID LIPOFUCSINOSIS, CLN1 1400
Molecular Tests PQBP1 (POLYGLUTAMINE-BINDING PROTEIN 1) » SANTAVUORI

MENTAL DISEASE SYNDROMIC (X -LINKED), TYPE3, MRXS3
RETARDATION, 810
» SUTHERLAND-HAAN MENTAL RETARDATION SYNDROME (X-LINKED)

Molecular Tests PRCD (PRCD, DOG, HOMOLOG OF) RETINITIS PIGMENTOSA, TYPE 36, RP36 750
Molecular Tests PRF1 (PERFORIN 1, PORE-FORMING PROTEIN) HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, TYPE 2, FHL2 910
Molecular Tests PRKAG2 (PROTEIN KINASE, AMP-ACTIVATED, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL 1070
NONCATALYTIC, GAMMA-2, AMP-ACTIVATED
PROTEIN KINASE, NONCATALYTIC, GAMMA-2
AMPK-GAMMA-2) » PHOSPHORYLASE KINASE DEFICIENCY OF HEART
Molecular Tests PRKAG2 (PROTEIN KINASE, AMP-ACTIVATED, CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE 1070
NONCATALYTIC, GAMMA-2, AMP-ACTIVATED SYNDROME
PROTEIN KINASE, NONCATALYTIC, GAMMA-2
AMPK-GAMMA-2)
Molecular Tests PRKAR1A CARNEY COMPLEX, TYPE 1 510
Molecular Tests PRKAR1A » PRIMARY

CARDIAC PIGMENTED NODULAR ADRENOCORTICAL DISEASE
MYXOMA 510
Molecular Tests PRKCG (PROTEIN KINASE C, GAMMA, PKCC) SPINOCEREBELLAR ATAXIA 14, SCA14 1510
Molecular Tests PRKCSH (PROTEIN KINASE C SUBSTRATE, 80-KD, POLYCYSTIC LIVER DISEASE 1700
HEAVY CHAIN; GLUCOSIDASE II, BETA SUBUNIT;
HEPATOCYSTIN)
Molecular Tests PRNP (PRION PROTEIN) CREUTZFELDT-JAKOB DISEASE, CJD 560
Molecular Tests PRNP (PRION PROTEIN) GERSTMANN-STRAUSSLER DISEASE, GSD 560
Molecular Tests PRNP (PRION PROTEIN) INSOMNIA-DYSAUTONOMIA 560
Molecular Tests PRNP (PRION PROTEIN) » FAMILIAL FATAL

HUNTINGTON INSOMNIA1, HDL1
DISEASE-LIKE 560
Molecular Tests PROK2 (PROKINETICIN 2) KALLMANN SYNDROME, TYPE 4, KAL4 910

» HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA, TYPE 4
Molecular Tests PROKR2 (PROKINETICIN RECEPTOR 2; G PROTEIN- KALLMANN SYNDROME, TYPE 3, KAL3 710
COUPLED RECEPTOR 73-LIKE 1) » HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA, TYPE 3
Molecular Tests PROM1 (PROMININ 1; PROMININ, MOUSE, HOMOLOG- STARGARDT DISEASE, TYPE 4 1080
LIKE 1; PROML1)
Molecular Tests PROM1 (PROMININ 1; PROMININ, MOUSE, HOMOLOG- MACULAR DYSTROPHY, RETINAL, TYPE 2 1080
LIKE 1; PROML1)
Molecular Tests PROM1 (PROMININ 1; PROMININ, MOUSE, HOMOLOG- RETINITIS PIGMENTOSA, TYPE 41, RP41 1080
LIKE 1; PROML1)
Molecular Tests PROM1 (PROMININ 1; PROMININ, MOUSE, HOMOLOG- CONE-ROD DYSTROPHY, TYPE 12, CORD12 1080
LIKE 1; PROML1)
Molecular Tests PROP1 (PROPHET OF PIT1, PAIRED-LIKE PITUITARY DWARFISM 3 850
HOMEODOMAIN TRANSCRIPTION FACTOR) » PANHYPOPITUITARISM
» HANHART DWARFISM PITUITARY HORMONE DEFICIENCY, COMBINED
» PITUITARY HORMONE DEFICIENCY, COMBINED WITH RIGID CERVICAL SPINE
» PITUITARY HORMONE DEFICIENCY, COMBINED
Molecular Tests PROS1 (PROTEIN S) THROMBOEMBOLISM 910
Molecular Tests PROS1 (PROTEIN S) THROMBOEMBOLISM 610
Molecular Tests PRPF3 (PRECURSOR mRNA-PROCESSING FACTOR 3, S. RETINITIS PIGMENTOSA, TYPE 18, RP18 990
CEREVISIAE, HOMOLOG OF; PRP3)
Molecular Tests PRPF31 (PRP31, PRECURSOR mRNA-PROCESSING RETINITIS PIGMENTOSA, TYPE 11, RP11 990
FACTOR 31, S. CEREVISIAE, HOMOLOG OF)
CEREVISIAE, HOMOLOG OF; PRP6; ANDROGEN
RECEPTOR N-TERMINAL DOMAIN-TRANSACTIVATING
PROTEIN 1; ANT1)
CEREVISIAE, HOMOLOG OF)
Molecular Tests PRPH2 (PERIPHERIN 2, MOUSE, HOMOLOG OF, RDS) MACULAR DYSTROPHY 610
Molecular Tests PRPH2 (PERIPHERIN 2, MOUSE, HOMOLOG OF, RDS) FUNDUS ALBIPUNCTATUS 610
» RETINITIS PUNCTATA ALBESCENS
Molecular Tests PRPH2 (PERIPHERIN 2, MOUSE, HOMOLOG OF, RDS) PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM 610
» MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY
» BUTTERFLY DYSTROPHY OF RETINAL PIGMENT EPITHELIUM
Molecular Tests PRPH2 (PERIPHERIN 2, MOUSE, HOMOLOG OF, RDS) STARGARDT DISEASE, TYPE 1 610
» MACULAR DEGENERATION, JUVENILE
Molecular Tests PRPH2 (PERIPHERIN 2, MOUSE, HOMOLOG OF, RDS) RETINITIS PIGMENTOSA, TYPE 7, RP7 610
Molecular Tests PRPH2 (PERIPHERIN 2, MOUSE, HOMOLOG OF, RDS) MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET 610
» FOVEOMACULAR DYSTROPHY, ADULT-ONSET
Molecular Tests PRRT2 (PROLINE-RICH TRANSMEMBRANE PROTEIN 2) EPISODIC KINESIGENIC DYSKINESIA 1 710
» PAROXYSMAL KINESIGENIC CHOREOATHETOSIS
» DYSTONIA TYPE 10, DYT10
Molecular Tests PRSS1 (PROTEASE, SERINE 1) PANCREATITIS, HEREDITARY, PCTT 560
Molecular Tests PRX (PERIAXIN) CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F, CMT4F 1410
» DEJERINE-SOTTAS HYPERTROPHIC NEUROPATHY

Molecular Tests PSAP (PROSAPOSIN) METACHROMATIC LEUKODYSTROPHY DUE TO SAP1 DEFICIENCY 1510
» GAUCHER DISEASE DUE TO SAP2 DEFICIENCY

Molecular Tests PSEN1 (PRESENILIN 1, PS1) ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 3, AD3 900
Molecular Tests PSEN2 (PRESENILIN 2, PS2) ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 4, AD4 900
Molecular Tests PSTPIP1 (PROLINE/ SERINE/ THREONINE PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE 2010
PHOSPHATASE-INTERACTING PROTEIN 1) » PAPA SYNDROME
» FAMILIAL RECURRENT ARTHRITIS
Molecular Tests PTCH1 (PTCH, PATCHED, PTC) BASAL CELL NEVUS SYNDROME 2110
Molecular Tests PTCH1 (PTCH, PATCHED, PTC) » GORLIN SYNDROME 7, HPE7

HOLOPROSENCEPHALY 2110
Molecular Tests PTEN PTEN HAMARTOMA TUMOR SYNDROME 1090
Molecular Tests PTEN PTEN HAMARTOMA TUMOR SYNDROME 840
Molecular Tests PTEN OLIGODENDROGLIOMA 1090
Molecular Tests PTEN OLIGODENDROGLIOMA 840
Molecular Tests PTEN BANNAYAN-MYHRE-RILEY-RUVALCAVA-SMITH-ZONANA SYNDROME 1090
Molecular Tests PTEN BANNAYAN-MYHRE-RILEY-RUVALCAVA-SMITH-ZONANA SYNDROME 840
Molecular Tests PTEN COWDEN DISEASE 1090
» LHERMITTE-DUCLOS DISEASE
Molecular Tests PTEN COWDEN DISEASE 840
Molecular Tests PTEN » LHERMITTE-DUCLOS

PROTEUS SYNDROME DISEASE 1090
» GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, AND
MACROCEPHALY
» ELATTOPROTEUS SYNDROME
» ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS
Molecular Tests PTEN PROTEUS SYNDROME 840

» GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, AND
MACROCEPHALY
» ELATTOPROTEUS SYNDROME
» ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS
Molecular Tests PTEN VATER-HYDROCEPHALUS SYNDROME 1090
Molecular Tests PTEN VATER-HYDROCEPHALUS SYNDROME 840
Molecular Tests PTEN MACROCEPHALY-AUTISM SYNDROME 1090
Molecular Tests PTEN MACROCEPHALY-AUTISM SYNDROME 840
Molecular Tests PTF1A (PANCREAS TRANSCRIPTION FACTOR 1, ALPHA PANCREATIC AND CEREBELLAR AGENESIS 700
SUBUNIT) » DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS
Molecular Tests PTPN11 LEOPARD SYNDROME, TYPE 1 1010
Molecular Tests PTPN11 NOONAN SYNDROME, TYPE 1 1010
Molecular Tests PTPN11 JUVENILE MYELOMONOCYTIC LEUKEMIA, JMML 560
Molecular Tests PUS1 (PSEUDOURIDINE SYNTHASE 1) MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 1030
Molecular Tests PWS PRADER-WILLI SYNDROME 650
Molecular Tests PWS PRADER-WILLI SYNDROME 880
Molecular Tests PYCR1 (PYRROLINE-5-CARBOXYLATE REDUCTASE 1) CUTIS LAXA, TYPE 2B (AUTOSOMAL RECESSIVE) 860
Molecular Tests PYGL (GLYCOGEN PHOSPHORYLASE, LIVER) GLYCOGEN STORAGE DISEASE, TYPE 6 1520
» GSD TYPE 6
» HERS DISEASE
» GLYCOGEN PHOSPHORYLASE DEFICIENCY
Molecular Tests PYGM (GLYCOGEN PHOSPHORYLASE, MUSCLE, GLYCOGEN STORAGE DISEASE, TYPE 5 1420
MYOPHOSPHORYLASE) » GSD TYPE 5
» MCARDLE DISEASE
» MYOPHOSPHORYLASE DEFICIENCY
Molecular Tests RAB3GAP1, RAB3GAP2, RAB18 WARBURG MICRO SYNDROME 3820
Molecular Tests RAB7 (RAS-ASSOCIATED PROTEIN RAB7) CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B, CMT2B 910
Molecular Tests RAF1 (V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE NOONAN SYNDROME, TYPE 5 1820
HOMOLOG 1)
Molecular Tests RAF1 (V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE NOONAN SYNDROME, TYPE 5 650
HOMOLOG 1)
Molecular Tests RAF1 (V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE LEOPARD SYNDROME, TYPE 1 1820
HOMOLOG 1)
Molecular Tests RAF1 (V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE LEOPARD SYNDROME, TYPE 1 650
HOMOLOG 1)
Molecular Tests RAG1 (RECOMBINATION-ACTIVATING GENE 1) SEVERE COMBINED IMMUNODEFICIENCY (AUTOSOMAL RECESSIVE), T CELL- 2240
NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE
» SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE
Molecular Tests RAG2 (RECOMBINATION-ACTIVATING GENE 2) OMENN SYNDROME 2240
» RETICULOENDOTHELIOSIS, FAMILIAL, WITH EOSINOPHILIA

Molecular Tests RAI1 (RETINOIC ACID-INDUCED GENE 1, RAI1) SMITH-MAGENIS SYNDROME 2400
Molecular Tests RAPSN (RAPSYN, RECEPTOR-ASSOCIATED PROTEIN OF FETAL AKINESIA DEFORMATION SEQUENCE 1060
THE SYNAPSE, 43-KD) » PENA-SHOKEIR SYNDROME, TYPE 1
» ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA
Molecular Tests RAPSN (RAPSYN, RECEPTOR-ASSOCIATED PROTEIN OF MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE 1060
THE SYNAPSE, 43-KD) RECEPTOR DEFICIENCY
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 1d
DYSMORPHISM
Molecular Tests RARS2 (ARGINYL-tRNA SYNTHETASE 2; RARSL) PONTOCEREBELLAR HYPOPLASIA, TYPE 6 2270
» ENCEPHALOPATHY, FATAL INFANTILE, WITH MITOCHONDRIAL RESPIRATORY
CHAIN DEFECTS
Molecular Tests RAX2 (RETINA AND ANTERIOR NEURAL FOLD CONE-ROD DYSTROPHY, TYPE 11, CORD11 1270
HOMEOBOX-LIKE 1; Q50-TYPE RETINAL HOMEOBOX;
QRX)
Molecular Tests RAX2 (RETINA AND ANTERIOR NEURAL FOLD MACULAR DEGENERATION, AGE-RELATED, TYPE 6, ARMD6 1270
HOMEOBOX-LIKE 1; Q50-TYPE RETINAL HOMEOBOX;
QRX)
Molecular Tests RB1 RETINOBLASTOMA, RB1 1060
Molecular Tests RB1 RETINOBLASTOMA, RB1 710
Molecular Tests RBM8A THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME 910

» TAR SYNDROME
» TETRAPHOCOMELIA-THROMBOCYTOPENIA SYNDROME
Molecular Tests RBP3 (RETINOL-BINDING PROTEIN 3; INTERSTITIAL RETINITIS PIGMENTOSA (AUTOSOMAL RECESSIVE) 990
RETINOL-BINDING PROTEIN)
Molecular Tests RBPJ (RECOMBINATION SIGNAL-BINDING PROTEIN ADAMS-OLIVER SYNDROME, TYPE 3 1160
FOR IMMUNOGLOBULIN KAPPA J REGION; C
PROMOTER-BINDING FACTOR 1; CBF1)
Molecular Tests RDH12 (RETINOL DEHYDROGENASE 12) LEBER CONGENITAL AMAUROSIS, TYPE 3, LCA3 990
Molecular Tests RDH5 (RETINOL DEHYDROGENASE 5) » AMAUROSIS

FUNDUS CONGENITA OF LEBER 3
ALBIPUNCTATUS 840
Molecular Tests RECQL2 (RECQ PROTEIN-LIKE 2) » RETINITIS

WERNER PUNCTATA ALBESCENS
SYNDROME 1710
Molecular Tests RECQL3 (RECQ2) BLOOM SYNDROME 3010
Molecular Tests RECQL3 (RECQ2) BLOOM SYNDROME 560
Molecular Tests RECQL4 (RECQ PROTEIN-LIKE 4, DNA HELICASE, RECQ- BALLER-GEROLD SYNDROME 2120
LIKE, TYPE 4 ) » CRANIOSYNOSTOSIS WITH RADIAL DEFECTS
» CRANIOSYNOSTOSIS-RADIAL APLASIA SYNDROME
Molecular Tests RECQL4 (RECQ PROTEIN-LIKE 4, DNA HELICASE, RECQ- RAPADILINO SYNDROME 2120
LIKE, TYPE 4 )
Molecular Tests RECQL4 (RECQ PROTEIN-LIKE 4, DNA HELICASE, RECQ- ROTHMUND-THOMSON SYNDROME 2120
LIKE, TYPE 4 ) » POIKILODERMA ATROPHICANS AND CATARACT
Molecular Tests REEP1 (RECEPTOR EXPRESSION-ENHANCING PROTEIN SPASTIC PARAPLEGIA 31, SPG31 (AUTOSOMAL DOMINANT) 810
1)
Molecular Tests REN (RENIN) HYPERPRORENINEMIA, FAMILIAL 960
Molecular Tests REN (RENIN) RENAL TUBULAR DYSGENESIS 960

Molecular Tests RET (RET KINASE) HIRSCHSPRUNG DISEASE, TYPE 1 1585
Molecular Tests RET (RET KINASE) » AGANGLIONIC

MEDULLARY MEGACOLON
THYROID CARCINOMA, MTC 900
Molecular Tests RET (RET KINASE) MULTIPLE ENDOCRINE NEOPLASIA, TYPE 2B, MEN2B 1585
Molecular Tests RET (RET KINASE) MULTIPLE ENDOCRINE NEOPLASIA, TYPE 2B, MEN2B 900
Molecular Tests RET (RET KINASE) MULTIPLE ENDOCRINE NEOPLASIA, TYPE 2A, MEN2A 900
Molecular Tests RET (RET KINASE) RENAL AGENESIS 1585
Molecular Tests RFT1 (RFT1, S. CEREVISIAE, HOMOLOG OF) CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1N, CDG1N 2080
Molecular Tests RGR (G PROTEIN-COUPLED RECEPTOR, RETINAL; RPE- RETINITIS PIGMENTOSA, TYPE 44, RP44 840
RETINAL G PROTEIN-COUPLED RECEPTOR)
Molecular Tests RHO (RHODOPSIN, OPSIN 2, OPN2) RETINITIS PIGMENTOSA, TYPE 4, RP4 790
Molecular Tests RIMS1 (PROTEIN REGULATING SYNAPTIC MEMBRANE » NIGHT BLINDNESS,

CONE-ROD CONGENITAL
DYSTROPHY, STATIONARY
TYPE 7, CORD7 1270
EXOCYTOSIS 1; RIM; RAB3A-INTERACTING MOLECULE
1)
Molecular Tests RIN2 (RAS AND RAB INTERACTOR 2; RAB5- MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS 910
INTERACTING PROTEIN 2; RAS INHIBITOR JC265) » MACS SYNDROME
Molecular Tests RLBP1 (RETINALDEHYDE-BINDING PROTEIN 1; FUNDUS ALBIPUNCTATUS 840
CELLULAR RETINALDEHYDE-BINDING PROTEIN; » RETINITIS PUNCTATA ALBESCENS
CRALBP)
Molecular Tests RLBP1 (RETINALDEHYDE-BINDING PROTEIN 1; BOTHNIA RETINAL DYSTROPHY 840
CELLULAR RETINALDEHYDE-BINDING PROTEIN; » VASTERBOTTEN DYSTROPHY
CRALBP)
Molecular Tests RLBP1 (RETINALDEHYDE-BINDING PROTEIN 1; NEWFOUNDLAND ROD-CONE DYSTROPHY 840
CELLULAR RETINALDEHYDE-BINDING PROTEIN;
CRALBP)
Molecular Tests RMRP (MITOCHONDRIAL RNA-PROCESSING CARTILAGE-HAIR HYPOPLASIA 760
ENDORIBONUCLEASE, RNA COMPONENT OF)
Molecular Tests RMRP (MITOCHONDRIAL RNA-PROCESSING » METAPHYSEAL
METAPHYSEAL CHONDRODYSPLASIA,
DYSPLASIA MCKUSICK TYPE
WITHOUT HYPOTRICHOSIS 760
ENDORIBONUCLEASE, RNA COMPONENT OF)
» CARTILAGE-HAIR HYPOPLASIA-LIKE SKELETAL DYSPLASIA WITHOUT
HYPOTRICHOSIS OR IMMUNODEFICIENCY
Molecular Tests RNASEH2A (RIBONUCLEASE H2, LARGE SUBUNIT) AICARDI-GOUTIERES SYNDROME 4 990
Molecular Tests RNASEH2B (RIBONUCLEASE H2, SUBUNIT B) AICARDI-GOUTIERES SYNDROME 2 1040
Molecular Tests RNASEH2C (RIBONUCLEASE H2, SUBUNIT C) AICARDI-GOUTIERES SYNDROME 3 860
Molecular Tests RNU4ATAC (RNA, U4ATAC SMALL NUCLEAR; RNA, U4, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MOPD1 550
SMALL NUCLEAR, AT-AC FORM; U4ATAC) » TAYBI-LINDER SYNDROME
» BRACHYMELIC PRIMORDIAL DWARFISM
» CEPHALOSKELETAL DYSPLASIA
Molecular Tests ROBO3 (ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 3; GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1585
RB-INHIBITING GENE 1; RBIG1; RIG1) » OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS
Molecular Tests ROR2 (NTRKR2) BRACHYDACTYLY, TYPE B, BDB 840
Molecular Tests ROR2 (NTRKR2) ROBINOW SYNDROME (AUTOSOMAL RECESSIVE) 1010
Molecular Tests RP1 (RP1 GENE; OXYGEN-REGULATED » COVESDEM

RETINITIS SYNDROMETYPE 1, RP1
PIGMENTOSA, 1180
PHOTORECEPTOR PROTEIN 1; ORP1)
Molecular Tests RP2 RETINITIS PIGMENTOSA, TYPE 2, RP2, (X-LINKED) 790
Molecular Tests RP9 (RP9 GENE; PIM1-ASSOCIATED PROTEIN, MOUSE, RETINITIS PIGMENTOSA, TYPE 9, RP9 790
HOMOLOG OF; PAP1)
Molecular Tests RPE65 (RETINAL PIGMENT EPITHELIUM-SPECIFIC LEBER CONGENITAL AMAUROSIS, TYPE 2, LCA2 990
PROTEIN, 65-KD)
Molecular Tests RPE65 (RETINAL PIGMENT EPITHELIUM-SPECIFIC RETINITIS PIGMENTOSA, TYPE 20, RP20 990
PROTEIN, 65-KD)
Molecular Tests RPGR (RETINITIS PIGMENTOSA GTPase REGULATOR) RETINITIS PIGMENTOSA, TYPE 15, RP15 1260
» CONE-ROD DEGENERATION (X-LINKED)
Molecular Tests RPGR (RETINITIS PIGMENTOSA GTPase REGULATOR) RETINITIS PIGMENTOSA, TYPE 3, RP3 1260
» CHOROIDORETINAL DEGENERATION WITH RETINAL REFLEX IN HETEROZYGOUS
WOMEN
Molecular Tests RPGR (RETINITIS PIGMENTOSA GTPase REGULATOR) CONE-ROD DYSTROPHY, (X-LINKED) TYPE 1, CORDX1 1260
» ACHROMATOPSIA, INCOMPLETE (X-LINKED)
Molecular Tests RPGRIP1 (RETINITIS PIGMENTOSA GTPase REGULATOR- LEBER CONGENITAL AMAUROSIS, TYPE 1, LCA1 1180
INTERACTING PROTEIN, RPGR-INTERACTING PROTEIN)
Molecular Tests RPGRIP1 (RETINITIS PIGMENTOSA GTPase REGULATOR- CONE-ROD DYSTROPHY, TYPE 13, CORD13 1180
INTERACTING PROTEIN, RPGR-INTERACTING PROTEIN)
Molecular Tests RPGRIP1L (RPGRIP1-LIKE) JOUBERT SYNDROME, TYPE 7 2910
Molecular Tests RPGRIP1L (RPGRIP1-LIKE) MECKEL SYNDROME, TYPE 5 2910
Molecular Tests RPL5 (RIBOSOMAL PROTEIN L5) DIAMOND-BLACKFAN ANEMIA, TYPE 6, DBA6 1520
Molecular Tests RPS19 (RIBOSOMAL PROTEIN S19) DIAMOND-BLACKFAN ANEMIA, TYPE 1, DBA1 780
Molecular Tests RPS19 (RIBOSOMAL PROTEIN S19) DIAMOND-BLACKFAN ANEMIA, TYPE 7, DBA7 1250
Molecular Tests RPS6KA3 (RSK2) MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE19, MRX19 1410
Molecular Tests RPS6KA3 (RSK2) COFFIN-LOWRY SYNDROME, CLS 1410
Molecular Tests RRM2B (RIBONUCLEOTIDE REDUCTASE, M2 B; MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, 1010
RIBONUCLEOTIDE REDUCTASE SMALL SUBUNIT 2- WITH RENAL TUBULOPATHY
LIKE, p53-INDUCIBLE; P53R2)
Molecular Tests RUNX2 (CBFA 1) CLEIDOCRANIAL DYSPLASIA, CCD 1210
Molecular Tests RYR1 (RYANODINE RECEPTOR 1) MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1, MHS1 2010
Molecular Tests RYR2 (RYANODINE RECEPTOR 2) » KING SYNDROME RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 2, ARVD2
ARRHYTHMOGENIC 1110
Molecular Tests RYR2 (RYANODINE RECEPTOR 2) VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC 1110
» VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
Molecular Tests SACS (SACSIN) SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, SACS, ARSACS 2810
Molecular Tests SACS (SACSIN) SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, SACS, ARSACS 610
Molecular Tests SAG (S-ANTIGEN; ARRESTIN) OGUCHI DISEASE, TYPE 1 990

» NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 1
Molecular Tests SAG (S-ANTIGEN; ARRESTIN) RETINITIS PIGMENTOSA, TYPE 47, RP47 990
Molecular Tests SALL1 (SAL-LIKE 1) TOWNES-BROCKS SYNDROME 1410

» RENAL-EAR-ANAL-RADIAL SYNDROME
» REAR SYNDROME
» ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES
» DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES
» TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME
Molecular Tests SALL1 (SAL-LIKE 1) TOWNES-BROCKS SYNDROME 610
» RENAL-EAR-ANAL-RADIAL SYNDROME
» REAR SYNDROME
» ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES
» DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES
» TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME
Molecular Tests SALL4 (SAL-LIKE 4) DUANE-RADIAL RAY SYNDROME 980

» OKIHIRO SYNDROME
» DUANE ANOMALY WITH RADIAL RAY ABNORMALITIES AND DEAFNESS
» DR SYNDROME
» ACRORENOOCULAR SYNDROME
Molecular Tests SALL4 (SAL-LIKE 4) DUANE-RADIAL RAY SYNDROME 610

» OKIHIRO SYNDROME
» DUANE ANOMALY WITH RADIAL RAY ABNORMALITIES AND DEAFNESS
» DR SYNDROME
» ACRORENOOCULAR SYNDROME
Molecular Tests SAMHD1 (SAM DOMAIN- AND HD DOMAIN- AICARDI-GOUTIERES SYNDROME, TYPE 5, AGS5 1160
CONTAINING PROTEIN 1; DENDRITIC CELL-DERIVED
IFNG-INDUCED PROTEIN; DCIP)
Molecular Tests SAMHD1 (SAM DOMAIN- AND HD DOMAIN- CHILBLAIN LUPUS, TYPE 2 1160
CONTAINING PROTEIN 1; DENDRITIC CELL-DERIVED
IFNG-INDUCED PROTEIN; DCIP)
Molecular Tests SBDS SHWACHMAN-DIAMOND SYNDROME, SDS 1160
» PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION

Molecular Tests SBF2 (SET-BINDING FACTOR 2; MYOTUBULARIN- CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, CMT4B2 2910
RELATED 13; MTMR13) » CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA
» CHARCOT-MARIE-TOOTH DISEASE, WITH FOCALLY FOLDED MYELIN SHEATHS,
Molecular Tests SBF2 (SET-BINDING FACTOR 2; MYOTUBULARIN- CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, CMT4B2 760
RELATED 13; MTMR13) » CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA
» CHARCOT-MARIE-TOOTH DISEASE, WITH FOCALLY FOLDED MYELIN SHEATHS,
Molecular Tests SCA1, SCA2, SCA3, SCA6 SPINOCEREBELLAR ATAXIA 810

» AUTOSOMAL DOMINANT CEREBELLAR ATAXIA, ADCA
Molecular Tests SCA8, SCA10, SCA12, SCA17 SPINOCEREBELLAR ATAXIA 750
» AUTOSOMAL DOMINANT CEREBELLAR ATAXIA, ADCA
Molecular Tests SCN1A (SODIUM CHANNEL, NEURONAL TYPE 1, ALPHA INTRACTABLE CHILDHOOD EPILEPSY WITH GENERALISED TONIC-CLONIC SEIZURES 1410
SUBUNIT) (ICEGTC)
Molecular Tests SCN1A (SODIUM CHANNEL, NEURONAL TYPE 1, ALPHA BORDERLINE SMEI (SMEIB) 1410
SUBUNIT)
Molecular Tests SCN1A (SODIUM CHANNEL, NEURONAL TYPE 1, ALPHA GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, GEFS+ 1410
SUBUNIT)
» GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, GEFS+, TYPE 2
Molecular Tests SCN1A (SODIUM CHANNEL, NEURONAL TYPE 1, ALPHA SEVERE MYOCLONIC EPILEPSY OF INFANCY 1410
SUBUNIT)
Molecular Tests SCN1B (SODIUM CHANNEL, VOLTAGE-GATED, TYPE 1, » DRAVET SYNDROME
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, GEFS+ 910
BETA SUBUNIT) » GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, GEFS+, TYPE 2
Molecular Tests SCN2A (SODIUM CHANNEL, VOLTAGE-GATED, TYPE 2, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, GEFS+ 2510
ALPHA SUBUNIT) » GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, GEFS+, TYPE 2
Molecular Tests SCN2A (SODIUM CHANNEL, VOLTAGE-GATED, TYPE 2, SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE 2510
ALPHA SUBUNIT) » EPILEPSY, BENIGN NEONATAL-INFANTILE
Molecular Tests SCN4A and CACNA1S (CACNL1A3) HYPOKALEMIC PERIODIC PARALYSIS, HOKPP 1210
Molecular Tests SCN5A » HYPERKALEMIC

HEART PERIODIC PARALYSIS
BLOCK, FAMILIAL 3110
Molecular Tests SCN5A SUDDEN INFANT DEATH SYNDROME, SIDS 3110
Molecular Tests SCN5A BRUGADA SYNDROME 3110
Molecular Tests SCN5A IDIOPATHIC VENTRICULAR FIBRILLATION 3110
Molecular Tests SCN5A LONG QT SYNDROME 3, LQT3 3110
Molecular Tests SCN9A (SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, » ROMANO-WARD SYNDROME
ERYTHERMALGIA, PRIMARY 1210
ALPHA SUBUNIT)
Molecular Tests SCN9A (SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, PAROXYSMAL EXTREME PAIN DISORDER 1210
ALPHA SUBUNIT) » PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING
Molecular Tests SCN9A (SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, INDIFFERENCE TO PAIN, CONGENITAL (AUTOSOMAL RECESSIVE) 1210
ALPHA SUBUNIT) » INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED
» CONGENITAL ANALGESIA (AUTOSOMAL RECESSIVE)
Molecular Tests SCNN1A (SODIUM CHANNEL, NONVOLTAGE-GATED 1, PSEUDOHYPOALDOSTERONISM, TYPE 1 (AUTOSOMAL RECESSIVE) 1060
ALPHA SUBUNIT, SCNN1, SCNEA)
Molecular Tests SCNN1B LIDDLE SYNDROME 1060
Molecular Tests SCNN1B » PSEUDOALDOSTERONISM

PSEUDOHYPOALDOSTERONISM, TYPE 1 (AUTOSOMAL RECESSIVE) 1060
Molecular Tests SCNN1G (SODIUM CHANNEL, NONVOLTAGE-GATED 1, LIDDLE SYNDROME 1110

GAMMA SUBUNIT, SCNEG) » PSEUDOALDOSTERONISM
Molecular Tests SCNN1G (SODIUM CHANNEL, NONVOLTAGE-GATED 1, PSEUDOHYPOALDOSTERONISM, TYPE 1 (AUTOSOMAL RECESSIVE) 1110
GAMMA SUBUNIT, SCNEG)
Molecular Tests SCO1 (S. CEREVISIAE, HOMOLOG OF, CYTOCHROME HEPATIC FAILURE, EARLY-ONSET, AND NEUROLOGIC DISORDER DUE TO 1070
OXIDASE-DEFICIENT 1, S. CEREVISIAE, HOMOLOG OF) CYTOCHROME c OXIDASE DEFICIENCY
Molecular Tests SCO2 CYTOCHROME c OXIDASE DEFICIENCY 550
» COX DEFICIENCY
Molecular Tests SCO2 LEIGH SYNDROME 550
Molecular Tests SCO2 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c 550

OXIDASE DEFICIENCY
» CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH

CARDIOENCEPHALOMYOPATHY
Molecular Tests SDHA (SUCCINATE DEHYDROGENASE COMPLEX, CYTOCHROME c OXIDASE DEFICIENCY 1160
SUBUNIT A, FLAVOPROTEIN, SUCCINATE
DEHYDROGENASE 2, FLAVOPROTEIN SUBUNIT; SDH2) » COX DEFICIENCY

Molecular Tests SDHA (SUCCINATE DEHYDROGENASE COMPLEX, LEIGH SYNDROME 1160
SUBUNIT A, FLAVOPROTEIN, SUCCINATE
DEHYDROGENASE 2, FLAVOPROTEIN SUBUNIT; SDH2)
Molecular Tests SDHAF1 (SUCCINATE DEHYDROGENASE COMPLEX CYTOCHROME c OXIDASE DEFICIENCY 810
ASSEMBLY FACTOR 1) » COX DEFICIENCY
Molecular Tests SDHAF2 (SUCCINATE DEHYDROGENASE COMPLEX PARAGANGLIOMAS, PGL2 810
ASSEMBLY FACTOR 2; SUCCINATE DEHYDROGENASE » GLOMUS TUMORS, TYPE 2
5; SDH5)
Molecular Tests SDHB (SUCCINATE DEHYDROGENASE 1, SDH1) PARAGANGLIOMAS, PGL4 1060
Molecular Tests SDHB, SDHC, SDHD, SDHAF2 » GLOMUS TUMORS, PGL

PARAGANGLIOMAS, TYPE 4 1080
» GLOMUS TUMORS
Molecular Tests SDHB, SDHC, SDHD, SDHAF2, TMEM127 PARAGANGLIOMAS, PGL 4430
» GLOMUS TUMORS
Molecular Tests SDHC (SUCCINATE DEHYDROGENASE 3, SDH3) PARAGANGLIOMAS, PGL 3 1050
Molecular Tests SDHD (SUCCINATE DEHYDROGENASE 4, SDH4) » GLOMUS TUMORS TYPE

PARAGANGLIOMAS, PGL 13 780
Molecular Tests SEC63 (SEC63, S. CEREVISIAE, HOMOLOG OF) » GLOMUS TUMORS TYPE

POLYCYSTIC 1
LIVER DISEASE 2010
Molecular Tests SEDL (SEDLIN) SPONDYLOEPIPHYSEAL DYSPLASIA TARDA (X-LINKED), SEDT 1060
Molecular Tests SEMA4A (SEMAPHORIN 4A; SEMA4A; SEMAPHORIN B; RETINITIS PIGMENTOSA, TYPE 35, RP35 990
SEMAB; SEMB)
Molecular Tests SEMA4A (SEMAPHORIN 4A; SEMA4A; SEMAPHORIN B; CONE-ROD DYSTROPHY, TYPE 10, CORD10 990
SEMAB; SEMB)
Molecular Tests SEPN1 (SELENOPROTEIN N, 1; SELN) RIGID SPINE MUSCULAR DYSTROPHY, TYPE 1 1550
» MULTICORE MYOPATHY, SEVERE CLASSIC FORM
» MINICORE MYOPATHY, SEVERE CLASSIC FORM
» DESMIN-RELATED MYOPATHY WITH MALLORY BODIES
» MUSCULAR DYSTROPHY, CONGENITAL, EICHSFELD TYPE
Molecular Tests SEPT9 (SEPTIN 9) AMYOTROPHY, HEREDITARY NEURALGIC 1410

» BRACHIAL PLEXUS NEUROPATHY, HEREDITARY
Molecular Tests SEPT9 (SEPTIN 9) SCHILBACH-ROTT SYNDROME 1410
» OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS
» BLEPHAROFACIOSKELETAL SYNDROME


Molecular Tests SERPINA1 (SERPIN PEPTIDASE INHIBITOR, CLADE A, ANTITRYPSINE DEFICIENCY, AAT 560
MEMBER 1, PROTEASE INHIBITOR 1, PI1, ALPHA-1-
ANTITRYPSIN, AAT)
Molecular Tests SERPINH1 (SERPIN PEPTIDASE INHIBITOR, CLADE H, PRETERM PREMATURE RUPTURE OF THE MEMBRANES, PPROM 860
MEMBER 1; COLLAGEN-BINDING PROTEIN 2; COLLIGIN
2; SERPINH2; HEAT-SHOCK PROTEIN 47; HSP47;
RHEUMATOID ARTHRITIS ANTIGEN-A47; RA-A47)
Molecular Tests SERPINH1 (SERPIN PEPTIDASE INHIBITOR, CLADE H, OSTEOGENESIS IMPERFECTA TYPE 10, OI10 860
MEMBER 1; COLLAGEN-BINDING PROTEIN 2; COLLIGIN
2; SERPINH2; HEAT-SHOCK PROTEIN 47; HSP47;
RHEUMATOID ARTHRITIS ANTIGEN-A47; RA-A47)
Molecular Tests SETX (SENATAXIN) AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE, ALS4 1680
» NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES
Molecular Tests SETX (SENATAXIN) SPINOCEREBELLAR ATAXIA (AUTOSOMAL RECESSIVE), 1 1680

» ATAXIA-OCULOMOTOR APRAXIA 2
Molecular Tests SFTPB (SURFACTANT PULMONARY-ASSOCIATED SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, TYPE 1, SMDP1 1460
PROTEIN B)
» PULMONARY ALVEOLAR PROTEINOSIS DUE TO SURFACTANT PROTEIN B

Molecular Tests SFTPC (SURFACTANT PULMONARY-ASSOCIATED SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, TYPE 2, SMDP2 1170
PROTEIN C)
» PULMONARY ALVEOLAR PROTEINOSIS DUE TO SURFACTANT PROTEIN C
Molecular Tests SGCA (SARCOGLYCAN, ALPHA, ADHALIN, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, LGMD2D 910
DYSTROGLYCAN 2)
» DUCHENNE - LIKE MUSCULAR DYSTROPHY, TYPE 2, AUTOSOMAL RECESSIVE,
DMDA2
» ADHALINOPATHY, PRIMARY
Molecular Tests SGCA, SGCB, SGCD, SGCG » MUSCULAR

MUSCULAR DYSTROPHY,LIMB-GIRDLE
DYSTROPHY, DUCHENNE - LIKE MUSCULAR DYSTROPHY, TYPE 2 660
Molecular Tests SGCB (SARCOGLYCAN, BETA) MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, LGMD2E 760
Molecular Tests SGCD (SARCOGLYCAN DELTA) MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, LGMD2F 860
Molecular Tests SGCD (SARCOGLYCAN DELTA) DILATED CARDIOMYOPATHY, 1L, CMD1L 860
Molecular Tests SGCE (SARCOGLYCAN, EPSILON) MYOCLONIC DYSTONIA 900
» MYOCLONUS-DYSTONIA SYNDROME
» DYSTONIA, ALCOHOL-RESPONSIVE
Molecular Tests SGCG (SARCOGLYCAN GAMMA, ADHALIN) DUCHENNE-LIKE MUSCULAR DYSTROPHY, TYPE 1 1000
» LIMB GIRDLE MUSCULAR DYSTROPHY 2C, LGMD2C
» MUSCULAR DYSTROPHY, DUCHENNE-LIKE MUSCULAR DYSTROPHY, TYPE 1

Molecular Tests SGCZ (SARCOGLYCAN, ZETA; ZSG1) UNKNOWN DISEASE 810
Molecular Tests SGSH (HEPARAN SULFATE SULFATASE, SULFAMIDASE, » MUCOPOLYSACCHARIDOSIS TYPE 3A, MPS3A 810
N-SULFOGLUCOSAMINE SULFOHYDROLASE)
SANFILIPPO SYNDROME A
Molecular Tests SH2D1A LYMPHOPROLIFERATIVE SYNDROME 730
Molecular Tests SH3BP2 » LYMPHOPROLIFERATIVE DISEASE (X-LINKED)

CHERUBISM 560
Molecular Tests SH3TC2 (SH3 DOMAIN AND TETRATRICOPEPTIDE CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4C, CMT4C 2010
REPEAT DOMAIN 2) (AUTOSOMAL RECESSIVE)
Molecular Tests SHH (SONIC HEDGEHOG) HOLOPROSENCEPHALY 3, HPE3 990
Molecular Tests SHH (SONIC HEDGEHOG) SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 990
Molecular Tests SHH, SIX3, TGIF and ZIC2 HOLOPROSENCEPHALY 2660
Molecular Tests SHOC2 (SUPPRESSOR OF CLEAR, C. ELEGANS, NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 550
HOMOLOG OF; RAS-BINDING PROTEIN SUR8, C.
ELEGANS, HOMOLOG OF; SUR8)
Molecular Tests SHOX (SHORT STATURE HOMEOBOX) LERI-WEILL DYSCHONDROSTEOSIS 810
» DYSCHONDROSTEOSIS
Molecular Tests SHOX (SHORT STATURE HOMEOBOX) LERI-WEILL DYSCHONDROSTEOSIS 810
» DYSCHONDROSTEOSIS
Molecular Tests SHOX (SHORT STATURE HOMEOBOX) LANGER MESOMELIC DYSPLASIA 810
» DYSCHONDROSTEOSIS, HOMOZYGOUS
» MESOMELIC DWARFISM OF THE HYPOPLASTIC ULNA, FIBULA, AND MANDIBLE

Molecular Tests SHOX (SHORT STATURE HOMEOBOX) LANGER MESOMELIC DYSPLASIA 810
» DYSCHONDROSTEOSIS, HOMOZYGOUS
» MESOMELIC DWARFISM OF THE HYPOPLASTIC ULNA, FIBULA, AND MANDIBLE

Molecular Tests SHOX (SHORT STATURE HOMEOBOX) SHORT STATURE 810
Molecular Tests SHOX (SHORT STATURE HOMEOBOX) SHORT STATURE 810
Molecular Tests SIL1 (SIL1, S. CEREVISIAE, HOMOLOG OF, BIP- MARINESCO-SJOGREN SYNDROME 1350
ASSOCIATED PROTEIN, BAP)
Molecular Tests SIX1 DEAFNESS, DFNA23 (AUTOSOMAL DOMINANT) 810
Molecular Tests SIX1 BRANCHIOOTIC SYNDROME, TYPE 3 810

» BO SYNDROME, TYPE 3
Molecular Tests SIX3 HOLOPROSENCEPHALY 2, HPE2 960
Molecular Tests SIX5 BRANCHIO-OTO-RENAL SYNDROME, TYPE 2, BOR2 960
Molecular Tests SIX6 MICROPHTHALMIA, ISOLATED, WITH CATARACT 2 990
Molecular Tests SLC12A1 (SOLUTE CARRIER FAMILY 12 BARTTER SYNDROME, ANTENATAL, TYPE 1 1560
(SODIUM/POTASSIUM/CHLORIDE TRANSPORTER), » HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA, ANTENATAL, TYPE 1
MEMBER 1, SODIUM-POTASSIUM-CHLORIDE » HYPERPROSTAGLANDIN E SYNDROME 1
TRANSPORTER 2, NKCC2)
Molecular Tests SLC12A3 (SOLUTE CARRIER FAMILY 12, GITELMAN SYNDROME 1410
SODIUM/CHLORIDE TRANSPORTER, MEMBER 3, » HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH
THIAZIDE-SENSITIVE NA-CL COTRANSPORTER) HYPOCALCIURIA
» POTASSIUM AND MAGNESIUM DEPLETION
Molecular Tests SLC12A3 (SOLUTE CARRIER FAMILY 12, GITELMAN SYNDROME 610
SODIUM/CHLORIDE TRANSPORTER, MEMBER 3, » HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH
THIAZIDE-SENSITIVE NA-CL COTRANSPORTER) HYPOCALCIURIA
» POTASSIUM AND MAGNESIUM DEPLETION
Molecular Tests SLC12A6 CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY 1710
» CHARLEVOIX DISEASE
» ANDERMANN SYNDROME
» POLYNEUROPATHY, SENSORIMOTOR, WITH OR WITHOUT AGENESIS OF THE

Molecular Tests SLC16A2 (SOLUTE CARRIER FAMILY 16, MEMBER 2; CORPUS CALLOSUM
ALLAN-HERNDON-DUDLEY SYNDROME 1220
MONOCARBOXYLATE TRANSPORTER 8; MCT8) » MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY
» MENTAL RETARDATION WITH HYPOTONIA (X-LINKED)
Molecular Tests SLC17A5 INFANTILE SIALIC ACID STORAGE DISORDER 890
» SIALURIA, INFANTILE FORM
» N-ACETYLNEURAMINIC ACID STORAGE DISEASE

Molecular Tests SLC17A5 SIALURIA, FINNISH TYPE 890
Molecular Tests SLC19A2 (SOLUTE CARRIER FAMILY 19 (THIAMINE » SALLA DISEASE

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, TRMA 810
TRANSPORTER), MEMBER 2; THIAMINE TRANSPORTER » ROGERS SYNDROME
PROTEIN 1) » THIAMINE-RESPONSIVE MYELODYSPLASIA
» MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS
AND SENSORINEURAL DEAFNESS
Molecular Tests SLC1A3 (SOLUTE CARRIER FAMILY 1 (GLIAL HIGH EPISODIC ATAXIA, TYPE 6, EA6 960
AFFINITY GLUTAMATE TRANSPORTER), MEMBER 3;
EXCITATORY AMINO ACID TRANSPORTER 1; EAAT1;
GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER;
GLUTAMATE/ASPARTATE TRANSPORTER, HIGH
AFFINITY, SODIUM-DEPENDENT; GLAST1)
Molecular Tests SLC22A12 (SOLUTE CARRIER FAMILY 22, URATE HYPOURICEMIA, RENAL 810
TRANSPORTER, MEMBER 12, ORGANIC ANION » DALMATIAN HYPOURICEMIA
TRANSPORTER 4-LIKE, OAT4L, URATE TRANSPORTER » RENAL HYPOURICEMIA
1, URAT1 » URIC ACID UROLITHIASIS
Molecular Tests SLC22A4 (SOLUTE CARRIER FAMILY 22 (ORGANIC RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO 1010
CATION TRANSPORTER), MEMBER 4; OCTN1)
Molecular Tests SLC22A5 (SOLUTE CARRIER FAMILY 22, ORGANIC CARNITINE DEFICIENCY, SYSTEMIC PRIMARY 1010
CATION TRANSPORTER, MEMBER 5, OCTN2)
» SYSTEMIC CARNITINE DEFICIENCY
» CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL REABSORPTION OF

CARNITINE
» CARNITINE DEFICIENCY, PRIMARY

Molecular Tests SLC24A1 (SOLUTE CARRIER FAMILY 24 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D 1030
(SODIUM/POTASSIUM/CALCIUM EXCHANGER), » CSBN, COMPLETE (AUTOSOMAL RECESSIVE)
MEMBER 1)
Molecular Tests SLC25A13 (SOLUTE CARRIER FAMILY 25, MEMBER 13; CITRULLINEMIA, TYPE 2, ADULT-ONSET 1460
CITRIN)
Molecular Tests SLC25A13 (SOLUTE CARRIER FAMILY 25, MEMBER 13; CITRULLINEMIA, TYPE 2, NEONATAL-ONSET 1460
CITRIN) » CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY
Molecular Tests SLC25A15 (SOLUTE CARRIER FAMILY 25 HHH SYNDROME 810

(MITOCHONDRIAL CARRIER, ORNITHINE » HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
TRANSPORTER), MEMBER 15;ORNITHINE » ORNITHINE TRANSLOCASE DEFICIENCY
TRANSPORTER, MITOCHONDRIAL, 1)
Molecular Tests SLC25A19 (SOLUTE CARRIER FAMILY 25 THIAMINE METABOLISM DYSFUNCTION SYNDROME, TYPE 3, MICROCEPHALY TYPE 1020
(MITOCHONDRIAL THIAMINE PYROPHOSPHATE » MICROCEPHALY, AMISH TYPE
CARRIER), MEMBER 19; MITOCHONDRIAL
UNCOUPLING PROTEIN 1; MITOCHONDRIAL
DEOXYNUCLEOTIDE CARRIER, FORMERLY)
Molecular Tests SLC25A19 (SOLUTE CARRIER FAMILY 25 THIAMINE METABOLISM DYSFUNCTION SYNDROME, TYPE 4, BILATERAL STRIATAL 1020
(MITOCHONDRIAL THIAMINE PYROPHOSPHATE DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE
CARRIER), MEMBER 19; MITOCHONDRIAL » BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY
UNCOUPLING PROTEIN 1; MITOCHONDRIAL
DEOXYNUCLEOTIDE CARRIER, FORMERLY)
Molecular Tests SLC25A20 (SOLUTE CARRIER FAMILY 25, MEMBER 20, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY 1350
CARNITINE-ACYLCARNITINE TRANSLOCASE,
CARNITINE-ACYLCARNITINE CARRIER) » CACT DEFICIENCY
Molecular Tests SLC25A22 (SOLUTE CARRIER FAMILY 25 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, TYPE 3, EIEE3 1370
(MITOCHONDRIAL CARRIER, GLUTAMATE), MEMBER
22; GLUTAMATE CARRIER 1; GC1)
Molecular Tests SLC25A4 (SOLUTE CARRIER FAMILY 25 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA 810
(MITOCHONDRIAL CARRIER), MEMBER 4, ADENINE DELETIONS, (AUTOSOMAL DOMINANT), TYPE 2
NUCLEOTIDE TRANSLOCATOR 1, ANT1 ADP/ATP
TRANSLOCATOR OF SKELETAL MUSCLE, ADP/ATP » PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA (AUTOSOMAL DOMINANT), 2
TRANSLOCASE 1)
Molecular Tests SLC26A2 (DTD SULFATE TRANSPORTER, DTDST) DIASTROPHIC DYSPLASIA , DTD 1100
Molecular Tests SLC26A2 (DTD SULFATE TRANSPORTER, DTDST) EPIPHYSEAL DYSPLASIA, MULTIPLE, TYPE 4, EDM4 1100
Molecular Tests SLC26A2 (DTD SULFATE TRANSPORTER, DTDST) » MULTIPLE EPIPHYSEAL

ATELOSTEOGENESIS TYPEDYSPLASIA
2 (AUTOSOMAL RECESSIVE) 1100
» AO TYPE 2
» DE LA CHAPELLE DYSPLASIA
Molecular Tests SLC26A2 (DTD SULFATE TRANSPORTER, DTDST) ACHONDROGENESIS TYPE 1B 1100
Molecular Tests SLC26A3 (SOLUTE CARRIER FAMILY 26, MEMBER 3) » ACHONDROGENESIS,

DIARRHEA FRACCARO
1, SECRETORY TYPE
CHLORIDE, CONGENITAL 1410
» CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE
Molecular Tests SLC26A4 (PENDRIN) PENDRED SYNDROME, PDS 1210
Molecular Tests SLC26A4 (PENDRIN) DEAFNESS, DFNB4 1210
Molecular Tests SLC26A4 (PENDRIN) » DEAFNESS,VESTIBULAR

ENLARGED (AUTOSOMAL RECESSIVE),
AQUEDUCT NEUROSENSORY
SYNDROME, EVA 4 1210
Molecular Tests SLC29A3 (SOLUTE CARRIER FAMILY 29 (NUCLEOSIDE HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME 2450
TRANSPORTER), MEMBER 3; EQUILIBRATIVE » FAISALABAD HISTIOCYTOSIS
NUCLEOSIDE TRANSPORTER 3; ENT3) » ROSAI-DORFMAN DISEASE, FAMILIAL
» HISTIOCYTOSIS WITH JOINT CONTRACTURES AND SENSORINEURAL DEAFNESS
» PIGMENTED HYPERTRICHOSIS WITH INSULIN-DEPENDENT DIABETES MELLITUS
» H SYNDROME
Molecular Tests SLC2A1 (SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER 1370
GLUCOSE TRANSPORTER), MEMBER 1; GLUT1; » GLUT1 DEFICIENCY SYNDROME
ERYTHROCYTE/HEPATOMA GLUCOSE TRANSPORTER)
Molecular Tests SLC2A1 (SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER 910
GLUCOSE TRANSPORTER), MEMBER 1; GLUT1; » GLUT1 DEFICIENCY SYNDROME
ERYTHROCYTE/HEPATOMA GLUCOSE TRANSPORTER)
Molecular Tests SLC2A10 (SOLUTE CARRIER FAMILY 2 - FACILITATED ARTERIAL TORTUOSITY SYNDROME, ATS 860
GLUCOSE TRANSPORTER, MEMBER 10, GLUCOSE
TRANSPORTER 10, GLUT10)
Molecular Tests SLC2A2 (SOLUTE CARRIER FAMILY 2 (FACILITATED FANCONI-BICKEL SYNDROME 960
GLUCOSE TRANSPORTER), MEMBER 2) » HEPATORENAL GLYCOGENOSIS WITH RENAL FANCONI SYNDROME
» GLYCOGENOSIS, FANCONI TYPE
» GLYCOGEN STORAGE DISEASE, TYPE 11
Molecular Tests SLC34A3 (SOLUTE CARRIER FAMILY 34 SODIUM/INORGANIC PHOSPHATE COTRANSPORTER, TYPE 2C, NPT2C 1055
(SODIUM/PHOSPHATE COTRANSPORTER), MEMBER 3; » HYPERCALCIURIC RICKETS
SODIUM/INORGANIC PHOSPHATE COTRANSPORTER,
TYPE IIC; NPTIIC)
Molecular Tests SLC35A1 (SOLUTE CARRIER FAMILY 35 (CMP-SIALIC CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2F, CDG2F 1350
ACID TRANSPORTER), MEMBER 1; CYTIDINE
MONOPHOSPHATE-SIALIC ACID TRANSPORTER)
Molecular Tests SLC35C1 (SOLUTE CARRIER FAMILY 35, MEMBER CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2C, CDG2C 840
C1;GDP-FUCOSE TRANSPORTER 1) » LEUKOCYTE ADHESION DEFICIENCY, TYPE 2C
» RAMBAM-HASHARON SYNDROME
Molecular Tests SLC37A4 (GLUCOSE-6-PHOSPHATE TRANSPORTER 1; GLYCOGEN STORAGE DISEASE, TYPE 1B 930
G6PT1; GLUCOSE-6-PHOSPHATE TRANSLOCASE) » GSD TYPE 1B
Molecular Tests SLC3A1 (RBAT) CYSTINURIA TYPE 1 960
Molecular Tests SLC3A1 (RBAT) (analyzed together with SLC7A9) CYSTINURIA TYPE 1 1010
Molecular Tests SLC40A1 (FERROPORTIN 1, IREG1, SLC11A3) HEMOCHROMATOSIS, TYPE 4, HFE4 1260
Molecular Tests SLC45A2 (SOLUTE CARRIER FAMILY 45, MEMBER 2, OCULOCUTANEOUS ALBINISM, TYPE 4, OCA4 840
MATP (MEMBRANE-ASSOCIATED TRANSPORTER
PROTEIN)
Molecular Tests SLC4A1 (BAND 3 OF RED CELL MEMBRANE, HEMOLYTIC ANEMIA DUE TO BAND 3 MONTEFIORE 1260
ERYTHROID PROTEIN BAND 3, ANION EXCHANGE
PROTEIN 1) SPHEROCYTOSIS, HEREDITARY, DUE TO BAND 3 (TUSCALOOSA, PRAGUE, CHUR,
NOIRTERRE, LYON, GENAS, FUKUOKA, TOKYO, COIMBRA, CAPE TOWN, PRAGUE III)
OVALOCYTOSIS (SOUTHEAST ASIAN , MALAYSIAN-MELANESIAN-FILIPINO TYPE)
ACANTHOCYTOSIS
ERYTHROCYTOSIS, STOMATOCYTIC HEREDITARY

Molecular Tests SLC4A1 (BAND 3 OF RED CELL MEMBRANE, DIEGO BLOOD GROUP ANTIGEN 1260
PROTEIN 1)
Molecular Tests SLC4A1 (BAND 3 OF RED CELL MEMBRANE, WALDNER BLOOD GROUP ANTIGEN WD(A) 1260
PROTEIN 1)
Molecular Tests SLC4A1 (BAND 3 OF RED CELL MEMBRANE, WRIGHT BLOOD GROUP ANTIGEN 1260
PROTEIN 1)
Molecular Tests SLC4A1 (BAND 3 OF RED CELL MEMBRANE, RENAL TUBULAR ACIDOSIS, DISTAL (AUTOSOMAL DOMINANT) 1260
PROTEIN 1)
» RENAL TUBULAR ACIDOSIS 1
Molecular Tests SLC4A1 (BAND 3 OF RED CELL MEMBRANE, RENAL TUBULAR ACIDOSIS, DISTAL (AUTOSOMAL RECESSIVE) 1260
PROTEIN 1) » RENAL TUBULAR ACIDOSIS (AUTOSOMAL RECESSIVE) WITH PRESERVED HEARING
» RENAL TUBULAR ACIDOSIS, DISTAL, (AUTOSOMAL RECESSIVE) WITH LATE-ONSET

Molecular Tests SLC4A4 (SODIUM BICARBONATE COTRANSPORTER 1, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES 1410
NBC1)
Molecular Tests SLC5A1 (SOLUTE CARRIER FAMILY 5 GLUCOSE/GALACTOSE MALABSORPTION 1055
(SODIUM/GLUCOSE COTRANSPORTER), MEMBER » MONOSACCHARIDE MALABSORPTION
1;SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE
COTRANSPORTER), MEMBER 1
Molecular Tests SLC5A2 RENAL GLUCOSURIA 860
Molecular Tests SLC5A5 (SODIUM-IODIDE SYMPORTER, NIS) THYROID HORMONOGENESIS 1530
Molecular Tests SLC6A3 (SOLUTE CARRIER FAMILY 6 TOBACCO ADDICTION, SUSCEPTIBILITY TO 1160
(NEUROTRANSMITTER TRANSPORTER, DOPAMINE), » NICOTINE DEPENDENCE, SUSCEPTIBILITY TO
MEMBER 3; DOPAMINE TRANSPORTER; DAT1)
Molecular Tests SLC6A8 (CREATINE TRANSPORTER, CT1) CREATINE DEFICIENCY SYNDROME (X-LINKED) 1760
Molecular Tests SLC6A8 (CREATINE TRANSPORTER, CT1) MENTAL RETARDATION, WITH SEIZURES, SHORT STATURE AND MIDFACE 1760
HYPOPLASIA (X-LINKED)
Molecular Tests SLC7A7 (SOLUTE CARRIER FAMILY 7, MEMBER 7) LYSINURIC PROTEIN INTOLERANCE 910
» DIBASICAMINO ACIDURIA, TYPE 2
Molecular Tests SLC7A9 CYSTINURIA TYPE 1 960
Molecular Tests SLC7A9 (analyzed together with SLC3A1) CYSTINURIA TYPE 1 1010
Molecular Tests SLC9A6 (SOLUTE CARRIER FAMILY 9, ISOFORM A6) MENTAL RETARDATION, SYNDROMIC (X-LINKED), CHRISTIANSON TYPE 1960
Molecular Tests SMAD3 (MOTHERS AGAINST DECAPENTAPLEGIC, LOEYS-DIETZ SYNDROME, TYPE 1C 860
DROSOPHILA, HOMOLOG OF,3) » ANEURYSMS-OSTEOARTHRITIS SYNDROME, AOS
» LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS
Molecular Tests SMAD4 (DPC4) POLYPOSIS, JUVENILE INTESTINAL 1050
Molecular Tests SMAD4 (DPC4) JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 1050
» POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS

MALFORMATION
Molecular Tests SMARCAL1 (SWI/SNF-RELATED, MATRIX-ASSOCIATED, IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE 1310
ACTIN-DEPENDENT REGULATOR OF CHROMATIN,
SUBFAMILY A-LIKE PROTEIN 1)
Molecular Tests SMC1A (STRUCTURAL MAINTENANCE OF CORNELIA DE LANGE SYNDROME (X-LINKED) 1160
CHROMOSOMES 1A, SMC1L1, SMC1)
Molecular Tests SMC3 (STRUCTURAL MAINTENANCE OF CORNELIA DE LANGE SYNDROME, TYPE 3 1510
CHROMOSOMES 3; CHONDROITIN SULFATE
PROTEOGLYCAN 6; BAMACAN)
Molecular Tests SMCX (JARID1C) MENTAL RETARDATION, SYNDROMIC (X –LINKED) 1460
Molecular Tests SMN1 (SURVIVAL MOTOR NEURON PROTEIN) SPINAL MUSCULAR ATROPHY 1, SMA1 1360
Molecular Tests SMPD1 (SPHINGOMYELINASE) NIEMANN-PICK DISEASE, TYPE A 1270
» SPHINGOMYELIN LIPIDOSIS
Molecular Tests SMPD1 (SPHINGOMYELINASE) NIEMANN-PICK DISEASE, TYPE B 1270
Molecular Tests SNCA (ALPHA SYNUCLEIN) LEWY BODY DEMENTIA 760
Molecular Tests SNCA (ALPHA SYNUCLEIN) LEWY

LEWY BODY
BODY DEMENTIA
DEMENTIA 760
Molecular Tests SNCA (ALPHA SYNUCLEIN) LEWY BODYDISEASE,

PARKINSON DEMENTIATYPE 1, PARK1 (AUTOSOMAL DOMINANT) 760
Molecular Tests SNCA (ALPHA SYNUCLEIN) » LEWY BODY

PARKINSON PARKINSONISM
DISEASE, TYPE 1, PARK1 (AUTOSOMAL DOMINANT) 760
Molecular Tests SNCA (ALPHA SYNUCLEIN) » LEWY BODY

PARKINSON PARKINSONISM
DISEASE, TYPE 4, PARK4 (AUTOSOMAL DOMINANT) 760
Molecular Tests SNCA (ALPHA SYNUCLEIN) PARKINSON DISEASE, TYPE 4, PARK4 (AUTOSOMAL DOMINANT) 760
Molecular Tests SOD1 (SUPEROXIDE DISMUTASE 1) AMYOTROPHIC LATERAL SCLEROSIS, ALS 860
Molecular Tests SOD1, TARDBP, ANG, ALS6 » LOU GEHRIG'SLATERAL

AMYOTROPHIC DISEASE SCLEROSIS 1600
Molecular Tests SOS1 (SON OF SEVENLESS, DROSOPHILA, HOMOLOG 1) FIBROMATOSIS, GINGIVAL, TYPE 1 1670
Molecular Tests SOS1 (SON OF SEVENLESS, DROSOPHILA, HOMOLOG 1) NOONAN SYNDROME, TYPE 4 1670
Molecular Tests SOX10 (SRY-BOX 10) WAARDENBURG-SHAH SYNDROME 780

» WAARDENBURG SYNDROME, TYPE 4
» WAARDENBURG-HIRSCHSPRUNG DISEASE
Molecular Tests SOX10 (SRY-BOX 10) YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME 780
Molecular Tests SOX10 (SRY-BOX 10) WAARDENBURG-SHAH SYNDROME, NEUROLOGIC VARIANT 780
» PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING
LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
Molecular Tests SOX10 (SRY-BOX 10) WAARDENBURG SYNDROME, TYPE 2E 780
Molecular Tests SOX2 (SRY-BOX 2) ANOPHTHALMIA, ANOP3 1020
Molecular Tests SOX3 (SRY-BOX 3) MENTAL RETARDATION (X-LINKED), WITH ISOLATED GROWTH HORMONE 840
DEFICIENCY, MRGH
Molecular Tests SOX9 (SRY-BOX 9) CAMPOMELIC DYSPLASIA 810
Molecular Tests SPATA7 (SPERMATOGENESIS-ASSOCIATED PROTEIN 7) » ACAMPOMELIC

LEBER CAMPOMELIC
CONGENITAL DYSPLASIA
AMAUROSIS, TYPE 3, LCA3 990
» RETINITIS PIGMENTOSA, JUVENILE, SPATA7-RELATED
» AMAUROSIS CONGENITA OF LEBER 3
Molecular Tests SPG20 (SPARTIN) FAMILIAL SPASTIC PARAPLEGIA 20 (AUTOSOMAL RECESSIVE), SPG20 1260
» TROYER SYNDROME
» SPASTIC PARAPARESIS, CHILDHOOD-ONSET, WITH DISTAL MUSCLE WASTING
Molecular Tests SPG3A (ATLASTIN) FAMILIAL SPASTIC PARAPLEGIA 3 (AUTOSOMAL DOMINANT), SPG3A, FSP1 1310
Molecular Tests SPG4 (SPASTIN, SPAST) FAMILIAL SPASTIC PARAPLEGIA 4 (AUTOSOMAL DOMINANT), SPG4, FSP2 1310
Molecular Tests SPG7 (PARAPLEGIN) SPASTIC PARAPLEGIA 7 (AUTOSOMAL RECESSIVE), SPG7, FSP7, 1160
Molecular Tests SPINK1 (PANCREATIC SECRETORY TRYPSIN PANCREATITIS, HEREDITARY, PCTT 560
INHIBITOR, PSTI, TUMOR-ASSOCIATED TRYPSIN
INHIBITOR, TATI)
Molecular Tests SPINK5 (LEKTI) NETHERTON SYNDROME 2460
Molecular Tests SPR (SEPIAPTERIN REDUCTASE) DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY 780
» SEPIAPTERIN REDUCTASE DEFICIENCY
Molecular Tests SPRED1 (SPROUTY-RELATED EVH1 DOMAIN- NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 960
CONTAINING PROTEIN 1) » LEGIUS SYNDROME
Molecular Tests SPTBN2 (SPECTRIN, BETA, NONERYTHROCYTIC, 2) SPINOCEREBELLAR ATAXIA 5, SCA5 2910
Molecular Tests SPTBN2 (SPECTRIN, BETA, NONERYTHROCYTIC, 2) SPINOCEREBELLAR ATAXIA 5, SCA5 610
Molecular Tests SPTLC1 (SERINE PALMITOYLTRANSFERASE, LONG- NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE 1, HSAN1 1360
CHAIN BASE SUBUNIT 1) » NEUROPATHY, HEREDITARY SENSORY RADICULAR (AUTOSOMAL DOMINANT)
Molecular Tests SRD5A2 (STEROID 5-ALPHA-REDUCTASE 2) PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, PPSH 860
» MALE PSEUDOHERMAPHRODITISM DUE TO 5–ALPHA-REDUCTASE DEFICIENCY
Molecular Tests SRY (SEX-DETERMINING REGION Y, TESTIS- GONADAL DYSGENESIS, XY FEMALE TYPE, GDXY 650
DETERMINING FACTOR, TDF)
» SWYER SYNDROME
Molecular Tests SRY (SEX-DETERMINING REGION Y, TESTIS- GONADAL DYSGENESIS, XY FEMALE TYPE, GDXY 560
DETERMINING FACTOR, TDF)
» SWYER SYNDROME
Molecular Tests STAR (STEROIDOGENIC ACUTE REGULATORY LIPOID CONGENITAL ADRENAL HYPERPLASIA 960
PROTEIN; START DOMAIN-CONTAINING PROTEIN 1; » ADRENAL HYPERPLASIA, TYPE 1
STARD1)
Molecular Tests STAT3 (SIGNAL TRANSDUCER AND ACTIVATOR OF HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME (AUTOSOMAL 1660
TRANSCRIPTION 3; ACUTE-PHASE RESPONSE FACTOR) DOMINANT)
» JOB SYNDROME
» HYPER-IgE SYNDROME (AUTOSOMAL DOMINANT)
Molecular Tests STK11 (SERINE THREONINE KINASE) PEUTZ-JEGHERS SYNDROME, PJS 1050
» HAMARTOUS INTESTINAL POLYPOSIS
Molecular Tests STRA6 (STIMULATED BY RETINOIC ACID 6, MOUSE, MICROPHTHALMIA, SYNDROMIC, TYPE 9, MCOPS9 1610
HOMOLOG OF) » SPEAR SYNDROME
» MATTHEW-WOOD SYNDROME
» PULMONARY AGENESIS, MICROPHTHALMIA, AND DIAPHRAGMATIC DEFECT, PMD
» ANOPHTHALMIA / MICROPHTHALMIA AND PULMONARY HYPOPLASIA
» ANOPHTHALMIA, CLINICAL, WITH MILD FACIAL DYSMORPHISM AND VARIABLE
MALFORMATIONS OF THE LUNG, HEART, AND DIAPHRAGM
Molecular Tests STS (STEROID SULFATASE; ARYLSULFATASE C; ARSC) ICHTHYOSIS (X-LINKED) 1410
» STEROID SULFATASE DEFICIENCY
Molecular Tests STS (STEROID SULFATASE; ARYLSULFATASE C; ARSC) ICHTHYOSIS (X-LINKED) 710
» STEROID SULFATASE DEFICIENCY
Molecular Tests STX11 (SYNTAXIN 11) HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, TYPE 4, FHL4 810
Molecular Tests STX16 (SYNTAXIN 16) PSEUDOHYPOPARATHYROIDISM, TYPE 1B 910
Molecular Tests STX16 (SYNTAXIN 16) PSEUDOHYPOPARATHYROIDISM, TYPE 1B 610
Molecular Tests STXBP1 (SYNTAXIN-BINDING PROTEIN 1; MUNC18-1) EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, TYPE 4, EIEE4 2300
Molecular Tests STXBP2 (SYNTAXIN-BINDING PROTEIN 2; UNC18, C. HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, TYPE 5, FHL5 1210
ELEGANS, HOMOLOG OF, 2; UNC18B; MUNC18-2)
Molecular Tests SUCLA2 (SUCCINATE-CoA LIGASE, ADP-FORMING, MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, 960
BETA SUBUNIT; ATP-SPECIFIC SUCCINYL-CoA WITH METHYLMALONIC ACIDURIA
SYNTHETASE, BETA SUBUNIT)
Molecular Tests SUCLG1 (SUCCINATE-CoA LIGASE, ALPHA SUBUNIT; LACTIC ACIDOSIS, FATAL INFANTILE 960
SUCCINATE-CoA LIGASE, ADP-FORMING, ALPHA
SUBUNIT; SUCLA1)
Molecular Tests SUMF1 (SULFATASE-MODIFYING FACTOR 1) MULTIPLE SULFATASE DEFICIENCY 1120
» MUCOSULFATIDOSIS
Molecular Tests SURF1 (SURFEIT 1) CYTOCHROME c OXIDASE DEFICIENCY 910
» COX DEFICIENCY
Molecular Tests SURF1 (SURFEIT 1) LEIGH SYNDROME 910
Molecular Tests SYCP3 (SYNAPTONEMAL COMPLEX PROTEIN 3) PREGNANCY LOSS, SUSCEPTIBILITY TO 1200
Molecular Tests SYCP3 (SYNAPTONEMAL COMPLEX PROTEIN 3) AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS 1200
» AZOOSPERMIA WITH MATURATION ARREST
Molecular Tests TAB2 (TAK1-BINDING PROTEIN 2; MITOGEN- LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION 960
ACTIVATED PROTEIN KINASE KINASE KINASE 7-
INTERACTING PROTEIN 2; MAP3K7IP2; TGF-BETA
ACTIVATED KINASE 1)
Molecular Tests TACO1 (TRANSLATIONAL ACTIVATOR OF CYTOCHROME c OXIDASE DEFICIENCY 1110

MITOCHONDRIALLY ENCODED CYTOCHROME c » COX DEFICIENCY
OXIDASE SUBUNIT I; TRANSLATIONAL ACTIVATOR OF » COMPLEX 4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
COX I; COILED-COIL DOMAIN-CONTAINING PROTEIN
44)
Molecular Tests TARDBP (TAR DNA-BINDING PROTEIN) AMYOTROPHIC LATERAL SCLEROSIS TYPE 10, ALS10 1060
Molecular Tests TAZ (TAFAZZIN) BARTH SYNDROME 860
Molecular Tests TBCE (TUBULIN-SPECIFIC CHAPERONE E) HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME 1460

» HYPOPARATHYROIDISM WITH SHORT STATURE, MENTAL RETARDATION, AND
SEIZURES
» SANJAD-SAKATI SYNDROME
» HYPOPARATHYROIDISM, CONGENITAL, ASSOCIATED WITH DYSMORPHISM,
GROWTH RETARDATION, AND DEVELOPMENTAL DELAY
Molecular Tests TBCE (TUBULIN-SPECIFIC CHAPERONE E) HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME 600
» HYPOPARATHYROIDISM WITH SHORT STATURE, MENTAL RETARDATION, AND
SEIZURES
» SANJAD-SAKATI SYNDROME
» HYPOPARATHYROIDISM, CONGENITAL, ASSOCIATED WITH DYSMORPHISM,
GROWTH RETARDATION, AND DEVELOPMENTAL DELAY
Molecular Tests TBCE (TUBULIN-SPECIFIC CHAPERONE E) KENNY-CAFFEY SYNDROME, TYPE 1, KCS1 (AUTOSOMAL RECESSIVE) 1460
Molecular Tests TBCE (TUBULIN-SPECIFIC CHAPERONE E) KENNY-CAFFEY SYNDROME, TYPE 1, KCS1 (AUTOSOMAL RECESSIVE) 650
Molecular Tests TBP (TATA BOX-BINDING PROTEIN, SCA17) SPINOCEREBELLAR ATAXIA 17, SCA17 560
Molecular Tests TBX1 (T-BOX 1) HUNTINGTON DISEASE-LIKE

DIGEORGE SYNDROME, DGS 4, HDL4 1560
» CATCH22
Molecular Tests TBX1 (T-BOX 1) DIGEORGE SYNDROME, DGS 710
» CATCH22
Molecular Tests TBX1 (T-BOX 1) VELOCARDIOFACIAL SYNDROME, VCFS 1560
Molecular Tests TBX1 (T-BOX 1) » SHPRINTZEN SYNDROME

VELOCARDIOFACIAL SYNDROME, VCFS 710
Molecular Tests TBX1 (T-BOX 1) » SHPRINTZEN SYNDROME

CONOTRUNCAL ANOMALY FACE SYNDROME 1560

Molecular Tests TBX1 (T-BOX 1) CONOTRUNCAL ANOMALY FACE SYNDROME 710

Molecular Tests TBX19 (T-BOX 19, T-BOX FACTOR, PITUITARY) ACTH DEFICIENCY 1700
Molecular Tests TBX3 (T-BOX 3) ULNAR - MAMMARY SYNDROME 1560
Molecular Tests TBX5 (T-BOX 5) » SCHINZEL SYNDROME

HOLT-ORAM SYNDROME, HOS1 960
Molecular Tests TBX5 (T-BOX 5) » HEART-HAND

HOLT-ORAM SYNDROME
SYNDROME, HOS1 760
Molecular Tests TCAP (TITIN-CAP) » HEART-HAND

MUSCULAR SYNDROME
DYSTROPHY, LIMB-GIRDLE, TYPE 2G, LGMD2G 730
Molecular Tests TCAP (TITIN-CAP) CARDIOMYOPATHY, DILATED, TYPE 1N 730
Molecular Tests TCF4 (TRANSCRIPTION FACTOR 4) PITT-HOPKINS SYNDROME 810

» ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION
» MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION
Molecular Tests TCIRG1 (T CELL IMMUNE REGULATOR 1, TIRC7, IOC116) OSTEOPETROSIS (AUTOSOMAL RECESSIVE) 1670
» MARBLE BONES (AUTOSOMAL RECESSIVE)

Molecular Tests TCN2 (TRANSCOBALAMIN II; VITAMIN B12-BINDING TRANSCOBALAMIN 2 DEFICIENCY 1300
PROTEIN 2)
Molecular Tests TCOF1 (TREACLE) TREACHER COLLINS-FRANCESCHETTI SYNDROME (TCOF) 1290
» TREACHER COLLINS SYNDROME

Molecular Tests TCOF1 (TREACLE) TREACHER COLLINS-FRANCESCHETTI SYNDROME (TCOF) 1660
» TREACHER COLLINS SYNDROME

Molecular Tests TECTA (TECTORIN, ALPHA) DEAFNESS, DFNA12 1630
Molecular Tests TECTA (TECTORIN, ALPHA) DEAFNESS, DFNB21 1630

Molecular Tests TERC (TELOMERASE RNA COMPONENT) APLASTIC ANEMIA 800
Molecular Tests TERC (TELOMERASE RNA COMPONENT) DYSKERATOSIS CONGENITA (AUTOSOMAL DOMINANT) 800
Molecular Tests TFR2 (TRANSFERRIN RECEPTOR 2) » DYSKERATOSIS CONGENITA,

HEMOCHROMATOSIS, SCOGGINS TYPE
TYPE 3, HFE3 1410
» HEMOCHROMATOSIS DUE TO DEFECT IN TRANSFERRIN RECEPTOR 2
Molecular Tests TG (SIMPLE, THYROGLOBULIN) GOITER, FAMILIAL, WITH HYPOTHYROIDISM (AUTOSOMAL RECESSIVE) 760
» GOITER, NONENDEMIC SIMPLE
» GOITER, ADENOMATOUS
» AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO
Molecular Tests TGFB1 (TGFB, TRANSFORMING GROWTH FACTOR, CAMURATI-ENGELMANN DISEASE 1110
BETA-1)
Molecular Tests TGFB1 (TGFB, TRANSFORMING GROWTH FACTOR, » DIAPHYSEAL DYSPLASIA
CAMURATI-ENGELMANN 1
DISEASE 710
BETA-1)
Molecular Tests TGFBI (TRANSFORMING GROWTH FACTOR, BETA- » DIAPHYSEAL
CORNEAL DYSPLASIA
DYSTROPHY, 1
EPITHELIAL BASEMENT MEMBRANE 1080
INDUCED, 68-KD; KERATOEPITHELIN; BETA-IG-H3; » COGAN CORNEAL DYSTROPHY
BIGH3) » CORNEAL DYSTROPHY, MAP-DOT-FINGERPRINT TYPE
» CORNEAL DYSTROPHY, MICROCYSTIC
Molecular Tests TGFBI (TRANSFORMING GROWTH FACTOR, BETA- CORNEAL DYSTROPHY, GROENOUW TYPE 1 1080
INDUCED, 68-KD; KERATOEPITHELIN; BETA-IG-H3; » GRANULAR CORNEAL DYSTROPHY, TYPE 1
BIGH3) » CORNEAL DYSTROPHY, PUNCTATE OR NODULAR
Molecular Tests TGFBI (TRANSFORMING GROWTH FACTOR, BETA- CORNEAL DYSTROPHY, LATTICE TYPE 1 1080
INDUCED, 68-KD; KERATOEPITHELIN; BETA-IG-H3;
BIGH3)
Molecular Tests TGFBI (TRANSFORMING GROWTH FACTOR, BETA- CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE 2 1080
INDUCED, 68-KD; KERATOEPITHELIN; BETA-IG-H3; » CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE
BIGH3) » CORNEAL DYSTROPHY, HONEYCOMB-SHAPED
Molecular Tests TGFBI (TRANSFORMING GROWTH FACTOR, BETA- CORNEAL DYSTROPHY, AVELLINO TYPE 1080
INDUCED, 68-KD; KERATOEPITHELIN; BETA-IG-H3; » COMBINED GRANULAR-LATTICE CORNEAL DYSTROPHY
BIGH3) » GRANULAR CORNEAL DYSTROPHY, TYPE 2
Molecular Tests TGFBI (TRANSFORMING GROWTH FACTOR, BETA- CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE 1 1080
INDUCED, 68-KD; KERATOEPITHELIN; BETA-IG-H3; » CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE
BIGH3) » CORNEAL DYSTROPHY, GEOGRAPHIC
» GRANULAR CORNEAL DYSTROPHY, TYPE 3
Molecular Tests TGFBI (TRANSFORMING GROWTH FACTOR, BETA- CORNEAL DYSTROPHY, LATTICE TYPE 3A 1080
INDUCED, 68-KD; KERATOEPITHELIN; BETA-IG-H3;
BIGH3)
Molecular Tests TGFBR1 (TRANSFORMING GROWTH FACTOR-BETA LOEYS-DIETZ SYNDROME 840
RECEPTOR, TYPE 1, ALK5)
Molecular Tests TGFBR1 and TGFBR2 MARFAN SYNDROME, TYPE 2, MFS2 1130
Molecular Tests TGFBR1 and TGFBR2 » MARFAN-LIKE

LOEYS-DIETZ CONNECTIVE TISSUE DISORDER
SYNDROME 1130
Molecular Tests TGFBR2 (TRANSFORMING GROWTH FACTOR-BETA MARFAN SYNDROME, TYPE 2, MFS2 890
RECEPTOR, TYPE 2)
Molecular Tests TGFBR2 (TRANSFORMING GROWTH FACTOR-BETA » MARFAN-LIKE
LOEYS-DIETZ CONNECTIVE TISSUE DISORDER
SYNDROME 890
RECEPTOR, TYPE 2)
Molecular Tests TGM1 (TRANSGLUTAMINASE) ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL 1860
Molecular Tests TGM1 (TRANSGLUTAMINASE) COLLODION FETUS 1860
Molecular Tests TH (TYROSINE HYDROXYLASE) » LAMELLAR

SEGAWA ICHTHYOSIS
» TYROSINE HYDROXYLASE DEFICIENCY
» DOPA-RESPONSIVE DYSTONIA (AUTOSOMAL RECESSIVE)
» PARKINSONISM, INFANTILE (AUTOSOMAL RECESSIVE)
Molecular Tests THAP1 (THAP DOMAIN-CONTAINING PROTEIN 1) DYSTONIA 6, DYT6 860
Molecular Tests THBD (THROMBOMODULIN) THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT 760
Molecular Tests THBD (THROMBOMODULIN) HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, TYPE 6 760
Molecular Tests THRB (THYROID HORMONE RECEPTOR, BETA, ERBA2) THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY 1540
» HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN
SECRETION
Molecular Tests THRB (THYROID HORMONE RECEPTOR, BETA, ERBA2) THYROID HORMONE RESISTANCE, GENERALIZED (AUTOSOMAL DOMINANT) 1540
» HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND
PERIPHERAL RESISTANCE TO THYROID HORMONES
Molecular Tests THRB (THYROID HORMONE RECEPTOR, BETA, ERBA2) THYROID HORMONE RESISTANCE, GENERALIZED (AUTOSOMAL RECESSIVE) 1540
» THYROID HORMONE UNRESPONSIVENESS
» REFETOFF SYNDROME
Molecular Tests TIMM8A (TRANSLOCASE OF INNER MITOCHONDRIAL MOHR-TRANEBJAERG SYNDROME 800

MEMBRANE 8, YEAST, HOMOLOG OF, A; » DYSTONIA-DEAFNESS SYNDROME
DEAFNESS/DYSTONIA PEPTIDE 1; DDP1) » DEAFNESS-DYSTONIA-OPTIC ATROPHY SYNDROME
» DEAFNESS SYNDROME, PROGRESSIVE, WITH BLINDNESS, DYSTONIA, FRACTURES,
AND MENTAL DEFICIENCY
Molecular Tests TIMM8A (TRANSLOCASE OF INNER MITOCHONDRIAL JENSEN SYNDROME 800

MEMBRANE 8, YEAST, HOMOLOG OF, A; » OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA
DEAFNESS/DYSTONIA PEPTIDE 1; DDP1)
Molecular Tests TIMP (THYMIDINE PHOSPHORYLASE; ECGF1; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, 1390
ENDOTHELIAL CELL GROWTH FACTOR, PLATELET- MNGIE
DERIVED, GLIOSTATIN)
» MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
» POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND

INTESTINAL PSEUDOOBSTRUCTION
Molecular Tests TIMP3 (TISSUE INHIBITOR OF METALLOPROTEINASE 3) FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 1010
» SORSBY SYNDROME
Molecular Tests TITF1 (THYROID NUCLEAR FACTOR, NKX2A) CHOREA, HEREDITARY BENIGN 800
Molecular Tests TK2 (THYMIDINE KINASE, MITOCHONDRIAL) MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM 1080
» MITOCHONDRIAL DNA DEPLETION MYOPATHY
Molecular Tests TM4SF2 (TRANSMEMBRANE 4 SUPERFAMILY, MEMBER MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 58, MRX58 1060
2)
Molecular Tests TMC1 (TRANSMEMBRANE COCHLEAR-EXPRESSED DEAFNESS, DFNB7 1610
GENE 1) » DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 7
» DEAFNESS, DFNB11
Molecular Tests TMC1 (TRANSMEMBRANE COCHLEAR-EXPRESSED DEAFNESS, DFNA36 1610

GENE 1) » DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 36
Molecular Tests TMEM126A (TRANSMEMBRANE PROTEIN 126A) OPTIC ATROPHY, TYPE 7, OPA7 1160
Molecular Tests TMEM127 (TRANSMEMBRANE PROTEIN 127) PHEOCHROMOCYTOMA 870
Molecular Tests TMEM67 (MKS3, MECKELIN, TRANSMEMBRANE MECKEL SYNDROME, TYPE 3 2910
PROTEIN 67)
» DYSENCEPHALIA SPLANCHNOCYSTICA
» GRUBER SYNDROME
Molecular Tests TMEM67 (MKS3, MECKELIN, TRANSMEMBRANE JOUBERT SYNDROME, TYPE 6 2910
PROTEIN 67)
Molecular Tests TMEM70 (TRANSMEMBRANE PROTEIN 70) MITOCHONDRIAL COMPLEX 5 (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 810
» ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP
SYNTHASE DEFICIENCY
Molecular Tests TMIE (TRANSMEMBRANE INNER EAR-EXPRESSED DEAFNESS, DFNB6 610

GENE) » DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 6
Molecular Tests TNFRSF13B (TUMOR NECROSIS FACTOR RECEPTOR COMMON VARIABLE IMMUNODEFICIENCY 760
SUPERFAMILY, MEMBER 13B, TRANSMEMBRANE » COMMON VARIABLE HYPOGAMMAGLOBULINEMIA
ACTIVATOR AND CAML INTERACTOR, TACI1) » HYPOGAMMAGLOBULINEMIA, ACQUIRED
» IMMUNOGLOBULIN DEFICIENCY, LATE-ONSET
Molecular Tests TNFRSF1A (TNFR1) HIBERNIAN FEVER, FAMILIAL 610
» FAMILIAL PERIODIC FEVER (AUTOSOMAL DOMINANT)
» TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PERIODIC SYNDROME, TRAPS

Molecular Tests TNFRSF6 (TUMOR NECROSIS FACTOR RECEPTOR AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 1, ALPS, ALPS1A, ALPS1B 1690
SUPERFAMILY, MEMBER 6, APT1, FAS)
» CANALE-SMITH SYNDROME
Molecular Tests TNNI2 (TROPONIN 1, FAST-TWITCH SKELETAL MUSCLE ARTHROGRYPOSIS, DISTAL, TYPE 2B 810
ISOFORM) » ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B
Molecular Tests TNNI3 (TROPONIN I, CARDIAC) CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 810
Molecular Tests TNNI3 (TROPONIN I, CARDIAC) HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 7, CMH7 810
Molecular Tests TNNT1 (TROPONIN T1, SKELETAL, SLOW; TROPONIN T) NEMALINE MYOPATHY 5, NEM5 1260
» NEMALINE MYOPATHY, AMISH TYPE
Molecular Tests TNNT2 (TROPONIN T2, CARDIAC) HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 2, CMH2 910
Molecular Tests TNNT2 (TROPONIN T2, CARDIAC) DILATED CARDIOMYOPATHY, 1D, CMD1D 910
Molecular Tests TNNT3 (TROPONIN T3, FAST SKELETAL) ARTHROGRYPOSIS, DISTAL, TYPE 2B 1560
» ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B
Molecular Tests TOPORS (TOPOISOMERASE I-BINDING RETINITIS PIGMENTOSA, TYPE 31, RP31 990
ARGININE/SERINE-RICH PROTEIN; p53-BINDING
PROTEIN 3; P53BP3)
Molecular Tests TP73L (TUMOR PROTEIN p73-LIKE) ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME 1810
Molecular Tests TP73L (TUMOR PROTEIN p73-LIKE) » ADULT SYNDROME

ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME 910
Molecular Tests TP73L (TUMOR PROTEIN p73-LIKE) » ADULT SYNDROME

ANKYLOBLEPHARON-ECTODERMAL DEFECTS WITH CLEFT LIP AND PALATE 1810
Molecular Tests TP73L (TUMOR PROTEIN p73-LIKE) ANKYLOBLEPHARON-ECTODERMAL DEFECTS WITH CLEFT LIP AND PALATE 910
Molecular Tests TP73L (TUMOR PROTEIN p73-LIKE) ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATE 1810
» RAPP-HODGKIN SYNDROME
Molecular Tests TP73L (TUMOR PROTEIN p73-LIKE) ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATE 910
» RAPP-HODGKIN SYNDROME
Molecular Tests TP73L (TUMOR PROTEIN p73-LIKE) ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 1, EEC1 1810
Molecular Tests TP73L (TUMOR PROTEIN p73-LIKE) LIMB-MAMMARY SYNDROME 1810
Molecular Tests TP73L (TUMOR PROTEIN p73-LIKE) LIMB-MAMMARY SYNDROME 910
Molecular Tests TP73L (TUMOR PROTEIN p73-LIKE) SPLIT HAND - SPLIT FOOT, TYPE 4, SHFM4 1810
Molecular Tests TP73L (TUMOR PROTEIN p73-LIKE) SPLIT HAND - SPLIT FOOT, TYPE 4, SHFM4 910
Molecular Tests TPM1 (TROPOMYOSIN 1) HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 3, CMH3 810

Molecular Tests TPM2 (TROPOMYOSIN 2, beta TROPOMYOSIN) ARTHROGRYPOSIS, DISTAL, TYPE 1 1160
» ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1
Molecular Tests TPM2 (TROPOMYOSIN 2, beta TROPOMYOSIN) NEMALINE MYOPATHY 4, NEM4 1160
» NEMALINE MYOPATHY CAUSED BY MUTATION IN THE TROPOMYOSIN 2 GENE
Molecular Tests TPM3 (TROPOMYOSIN 3; ALPHA-TROPOMYOSIN, SLOW MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, CFTD 1210
SKELETAL; TRK ONCOGENE)
Molecular Tests TPM3 (TROPOMYOSIN 3; ALPHA-TROPOMYOSIN, SLOW NEMALINE MYOPATHY 1, NEM1 1210
SKELETAL; TRK ONCOGENE) » CAP MYOPATHY, TPM3-RELATED
» FIBER-TYPE DISPROPORTION MYOPATHY, CONGENITAL, CFTDM
Molecular Tests TREM2 PRESENILE DEMENTIA WITH BONE CYSTS 610
» POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING

LEUKOENCEPHALOPATHY
» DEMENTIA, PROGRESSIVE, WITH LIPOMEMBRANOUS POLYCYSTIC

OSTEODYSPLASIA
» BRAIN-BONE-FAT DISEASE
Molecular Tests TREX1 (3-PRIME @REPAIR EXONUCLEASE 1, ATRIP) AICARDI-GOUTIERES SYNDROME 1 820
» ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION
AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS
» CREE ENCEPHALITIS
» PSEUDO-TORCH SYNDROME
» PSEUDOTOXOPLASMOSIS SYNDROME
Molecular Tests TRIM32 (TRIPARTITE MOTIF-CONTAINING PROTEIN 32) MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, LGMD2H 1040
Molecular Tests TRMU (tRNA 5-METHYLAMINOMETHYL-2- LIVER FAILURE, INFANTILE, TRANSIENT 1520
THIOURIDYLATE METHYLTRANSFERASE; TRNT1)
Molecular Tests TRPC6 (TRANSIENT RECEPTOR POTENTIAL CATION FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 2 1060
CHANNEL, SUBFAMILY C, MEMBER 6)
Molecular Tests TRPM6 (TRANSIENT RECEPTOR POTENTIAL CATION HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA 1810
CHANNEL, SUBFAMILY M, MEMBER 6;CHANNEL » HYPOMAGNESEMIA, INTESTINAL, WITH SECONDARY HYPOCALCEMIA
KINASE 2; CHAK2 MELASTATIN-RELATED TRP CATION
CHANNEL 6)
Molecular Tests TRPS1 (ZINC FINGER TRANSCRIPTION FACTOR TRPS1) TRICHORHINOPHALANGEAL SYNDROME, TYPE 1, TRPS1 1380
Molecular Tests TRPV4 (TRANSIENT RECEPTOR POTENTIAL CATION BRACHYOLMIA, TYPE 3 1890
CHANNEL, SUBFAMILY V, MEMBER 4; VANILLOID » BRACHYOLMIA (AUTOSOMAL DOMINANT)
RECEPTOR-RELATED OSMOTICALLY ACTIVATED » BRACHYRACHIA
CHANNEL; OSM9-LIKE TRANSIENT RECEPTOR
POTENTIAL CHANNEL 4; TRANSIENT RECEPTOR
POTENTIAL CHANNEL 12)
Molecular Tests TRPV4 (TRANSIENT RECEPTOR POTENTIAL CATION METATROPIC DYSPLASIA 1890
CHANNEL, SUBFAMILY V, MEMBER 4; VANILLOID » METATROPIC DWARFISM
RECEPTOR-RELATED OSMOTICALLY ACTIVATED
Molecular Tests TRPV4 (TRANSIENT RECEPTOR POTENTIAL CATION SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE 1890
CHANNEL, SUBFAMILY V, MEMBER 4; VANILLOID
RECEPTOR-RELATED OSMOTICALLY ACTIVATED
Molecular Tests TSC1 and TSC2 TUBEROUS SCLEROSIS 2010
Molecular Tests TSC1 (HAMARTIN) TUBEROUS SCLEROSIS 930
Molecular Tests TSC2 (TUBERIN) TUBEROUS SCLEROSIS 920
Molecular Tests TSEN54 (tRNA SPLICING ENDONUCLEASE 54, S. PONTOCEREBELLAR HYPOPLASIA, TYPE 4, PCH4 1990
CEREVISIAE, HOMOLOG OF; SEN54) » ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR
HYPOPLASIA
Molecular Tests TSEN54 (tRNA SPLICING ENDONUCLEASE 54, S. PONTOCEREBELLAR HYPOPLASIA, TYPE 2A, PCH2A 1990
CEREVISIAE, HOMOLOG OF; SEN54) » VOLENDAM NEURODEGENERATIVE DISEASE
» PONTOCEREBELLAR HYPOPLASIA WITH PROGRESSIVE CEREBRAL ATROPHY
Molecular Tests TSFM (Ts TRANSLATION ELONGATION FACTOR, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, COXPD3 810
MITOCHONDRIAL) » ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS
Molecular Tests TSHR (THYROID-STIMULATING HORMONE RECEPTOR) THYROID ADENOMA, HYPERFUNCTIONING 1000
Molecular Tests TSHR (THYROID-STIMULATING HORMONE RECEPTOR) THYROTROPIN, UNRESPONSIVENESS TO 1000
Molecular Tests TSHR (THYROID-STIMULATING HORMONE RECEPTOR) HYPERTHYROIDISM 1000
Molecular Tests TSHR (THYROID-STIMULATING HORMONE RECEPTOR) HYPOTHYROIDISM 1000
Molecular Tests TSHR (THYROID-STIMULATING HORMONE RECEPTOR) THYROID CARCINOMA 1000
Molecular Tests TSHR (THYROID-STIMULATING HORMONE RECEPTOR) GRAVES DISEASE 1000
Molecular Tests TTC19 (TETRATRICOPEPTIDE REPEAT DOMAIN 19) CYTOCHROME c OXIDASE DEFICIENCY 1370
» COX DEFICIENCY
Molecular Tests TTC8 (TETRATRICOPEPTIDE REPEAT DOMAIN 8; BBS8) BARDET-BIEDL SYNDROME TYPE 8, BBS8 990
Molecular Tests TTC8 (TETRATRICOPEPTIDE REPEAT DOMAIN 8; BBS8) RETINITIS PIGMENTOSA, TYPE 51, RP51 990
Molecular Tests TTID (TITIN IMMUNOGLOBULIN DOMAIN PROTEIN, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, LGMD1A 1010
MYOTILIN, MYOT)
Molecular Tests TTID (TITIN IMMUNOGLOBULIN DOMAIN PROTEIN, MYOTILINOPATHY 1010
MYOTILIN, MYOT)
Molecular Tests TTN (TITIN, CONNECTIN) » MYOPATHY, MYOFIBRILLAR,
CARDIOMYOPATHY, FAMILIAL MYOTILIN-RELATED
HYPERTROPHIC, TYPE 9 510
Molecular Tests TTN (TITIN, CONNECTIN) TIBIAL MUSCULAR DYSTROPHY, TARDIVE 510
» UDD MYOPATHY
Molecular Tests TTN (TITIN, CONNECTIN) CARDIOMYOPATHY, DILATED, 1G, CMD1G 510
Molecular Tests TTPA (TOCOPHEROL TRANSFER PROTEIN, ALPHA, ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY 860
TTP1)
Molecular Tests TTPA (TOCOPHEROL TRANSFER PROTEIN, ALPHA, VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF 860
TTP1) » ATAXIA, FRIEDREICH-LIKE, WITH SELECTIVE VITAMIN E DEFICIENCY
» FRIEDREICH-LIKE ATAXIA
Molecular Tests TTR (TRANSTHYRETIN) AMYLOID POLYNEUROPATHY 890
Molecular Tests TUBA1A (TUBULIN, ALPHA-1A) » AMYLOIDOSIS, TYPE

LISSENCEPHALY 3, LIS31 1280
Molecular Tests TUBB2B (TUBULIN, BETA-2B) POLYMICROGYRIA, ASYMMETRIC 1370
Molecular Tests TUBB3 (TUBULIN, BETA-3; TUBB4) FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 3A, WITH OR WITHOUT 1055
EXTRAOCULAR INVOLVEMENT
Molecular Tests TUBB3 (TUBULIN, BETA-3; TUBB4) CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1055
Molecular Tests TUFM (Tu TRANSLATION ELONGATION FACTOR, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY, TYPE 4 1210
MITOCHONDRIAL; EF-Tu, MITOCHONDRIAL)
Molecular Tests TULP1 (TUBBY-LIKE PROTEIN 1) RETINITIS PIGMENTOSA, TYPE 14, RP14 990
» RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED
Molecular Tests TULP1 (TUBBY-LIKE PROTEIN 1) LEBER CONGENITAL AMAUROSIS, TYPE 15, LCA15 990
Molecular Tests TUSC3 (TUMOR SUPPRESSOR CANDIDATE 3) MENTAL RETARDATION (AUTOSOMAL RECESSIVE), TYPE 7, MRT7 1420
Molecular Tests TWIST SAETHRE-CHOTZEN SYNDROME 820
Molecular Tests TWIST » CRANIOSYNOSTOSIS,

ROBINOW-SORAUF SAETHRE-CHOTZEN SYNDROME
SYNDROME 820
Molecular Tests TYMP (THYMIDINE PHOSPHORYLASE; PLATELET- MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, 1300
DERIVED ENDOTHELIAL CELL GROWTH FACTOR; MNGIE
GLIOSTATIN) » MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
» POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND
INTESTINAL PSEUDOOBSTRUCTION
» POLIP SYNDROME
Molecular Tests TYR (OCA1, TYROSINASE) OCULOCUTANEOUS ALBINISM, TYPE 1, OCA1 (TYROSINASE-NEGATIVE ) 1320
Molecular Tests TYRP1 (TYROSINASE-RELATED PROTEIN 1; CATALASE OCULOCUTANEOUS ALBINISM, TYPE 3, OCA3 840
B)
Molecular Tests TYRP1 (TYROSINASE-RELATED PROTEIN 1; CATALASE ALBINISM, RUFOUS OCULOCUTANEOUS, ROCA 840
B)
Molecular Tests UBE1 (UBIQUITIN-ACTIVATING ENZYME 1) SPINAL MUSCULAR ATROPHY (X-LINKED), TYPE 2, SMAX2 2810
» SPINAL MUSCULAR ATROPHY (X-LINKED), LETHAL INFANTILE
» ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL (X-LINKED)
Molecular Tests UBE3A ANGELMAN SYNDROME, AS 1300
Molecular Tests UBR1 (UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N- JOHANSON-BLIZZARD SYNDROME 1610

RECOGNIN 1)
» NASAL ALAR HYPOPLASIA, HYPOTHYROIDISM, PANCREATIC ACHYLIA, AND
CONGENITAL DEAFNESS
Molecular Tests UGT1A1 (UDP-GLYCURONOSYL TRANSFERASE) GILBERT SYNDROME 700
Molecular Tests UGT1A1 (UDP-GLYCURONOSYL TRANSFERASE) CRIGLER-NAJJAR SYNDROME TYPE 1 1040
Molecular Tests UGT1A1 (UDP-GLYCURONOSYL TRANSFERASE) CRIGLER-NAJJAR SYNDROME TYPE 2 1040
Molecular Tests UMOD (UROMODULIN) FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY, HNFJ 1010
Molecular Tests UMOD (UROMODULIN) » GOUTY NEPHROPATHY

MEDULLARY CYSTIC KIDNEY DISEASE 2, MCKD2 1010
Molecular Tests UNC119 (UNC119, C. ELEGANS, HOMOLOG OF; HUMAN CONE-ROD DYSTROPHY 790
RETINAL GENE 4; HRG4)
Molecular Tests UNC13D (UNC13, C. ELEGANS, HOMOLOG OF, D, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, TYPE 3, FHL3 1910
MUNC13-4)
Molecular Tests UNG (URACIL-DNA GLYCOSYLASE) IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5 1660
» HYPER-IgM SYNDROME 5
Molecular Tests UPF3B (UPF3, YEAST, HOMOLOG OF, B; REGULATOR OF MENTAL RETARDATION SYNDROMIC (X-LINKED), TYPE 14, MRXS14 1810
NONSENSE TRANSCRIPTS 3B)
Molecular Tests UPF3B (UPF3, YEAST, HOMOLOG OF, B; REGULATOR OF OPITZ-KAVEGGIA SYNDROME 1810
Molecular Tests UPF3B (UPF3, YEAST, HOMOLOG OF, B; REGULATOR OF LUJAN-FRYNS SYNDROME 1810
Molecular Tests UQCRB (UBIQUINOL-CYTOCHROME c REDUCTASE- CYTOCHROME c OXIDASE DEFICIENCY 1020
BINDING PROTEIN; UBIQUINONE-BINDING PROTEIN; » COX DEFICIENCY
UQBC) » COMPLEX 3, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
Molecular Tests UQCRQ (UBIQUINOL-CYTOCHROME c REDUCTASE, CYTOCHROME c OXIDASE DEFICIENCY 800
COMPLEX III SUBUNIT VII, 9.5-KD) » COX DEFICIENCY
Molecular Tests UROD (UROPORPHYRINOGEN DECARBOXYLASE) PORPHYRIA CUTANEA TARDA 1140
» PORPHYRIA, HEPATOCUTANEOUS TYPE
» UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY
Molecular Tests UROS (UROPORPHYRINOGEN III SYNTHASE) PORPHYRIA, CONGENITAL ERYTHROPOIETIC 1120
» UROPORPHYRINOGEN 3 SYNTHASE, DEFICIENCY OF
Molecular Tests USH1C (HARMONIN) USHER SYNDROME, TYPE 1C, USH1C 1180
Molecular Tests USH1C (HARMONIN) DEAFNESS, DFNB18 1180

Molecular Tests USH2A USHER SYNDROME, TYPE 2A, USH2A 1130
Molecular Tests USH2A RETINITIS PIGMENTOSA, TYPE 39, RP39 1130
Molecular Tests VAPB (VESICLE-ASSOCIATED MEMBRANE PROTEIN- AMYOTROPHIC LATERAL SCLEROSIS TYPE 8, ALS8 1090
ASSOCIATED PROTEIN B; VAMP-ASSOCIATED
PROTEIN)
Molecular Tests VCAN (VERSICAN; CHONDROITIN SULFATE WAGNER SYNDROME, TYPE 1 2210
PROTEOGLYCAN 2; CSPG2; CHONDROITIN SULFATE » WAGNER VITREORETINAL DEGENERATION
PROTEOGLYCAN CORE PROTEIN, CARTILAGE) » HYALOIDEORETINAL DEGENERATION OF WAGNER
» EROSIVE VITREORETINOPATHY
Molecular Tests VCL (VINCULIN, METAVINCULIN) CARDIOMYOPATHY, DILATED, TYPE 1W 1990
Molecular Tests VCP (VALOSIN-CONTAINING PROTEIN) INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND 1410
FRONTOTEMPORAL DEMENTIA, IBMPFD
» MUSCULAR DYSTROPHY, LIMB-GIRDLE, WITH PAGET DISEASE OF BONE
» PAGETOID AMYOTROPHIC LATERAL SCLEROSIS
» PAGETOID NEUROSKELETAL SYNDROME
» LOWER MOTOR NEURON DEGENERATION WITH PAGET-LIKE BONE DISEASE
Molecular Tests VCP (VALOSIN-CONTAINING PROTEIN) AMYOTROPHIC LATERAL SCLEROSIS 14, WITH OR WITHOUT FRONTOTEMPORAL 1410
DEMENTIA, ALS14
Molecular Tests VDR (VITAMIN D HORMONE RECEPTOR) VITAMIN D-DEPENDENT RICKETS, TYPE 2A 860
» RICKETS-ALOPECIA SYNDROME
» HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS

Molecular Tests VHL CEREBELLAR HEMANGIOMA 810
Molecular Tests VHL RENAL CELL CARCINOMA 1 810
Molecular Tests VHL PHEOCHROMOCYTOMA 810
Molecular Tests VHL VON HIPPEL-LINDAU SYNDROME, VHL 810
Molecular Tests VHL CHUVASH POLYCYTHEMIA 810
Molecular Tests VIPAR (VPS33B-INTERACTING PROTEIN, APICAL- ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS, TYPE 2, ARCS2 1470
BASOLATERAL POLARITY REGULATOR; SPE39, C.
ELEGANS, HOMOLOG OF; SPE39; CHROMOSOME 14
OPEN READING FRAME 133; C14ORF133)
Molecular Tests VKORC1 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 560
Molecular Tests VLDLR (VERY LOW DENSITY LIPOPROTEIN RECEPTOR) CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1710
1
» DYSEQUILIBRIUM SYNDROME
» CEREBELLAR HYPOPLASIA, VLDLR-ASSOCIATED
» CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT
QUADRUPEDAL LOCOMOTION 1
Molecular Tests VPS33B (VACUOLAR PROTEIN SORTING 33, YEAST, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, ARC SYNDROME 1470
HOMOLOG OF, B)
Molecular Tests VSX1 (VISUAL SYSTEM HOMEOBOX GENE 1, CRANIOFACIAL ANOMALIES, EMPTY SELLA TURCICA, CORNEAL ENDOTHELIAL 1160
ZEBRAFISH, HOMOLOG OF) CHANGES, AND ABNORMAL RETINAL AND AUDITORY BIPOLAR CELLS
Molecular Tests VSX1 (VISUAL SYSTEM HOMEOBOX GENE 1, CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 PPCD1 1160
ZEBRAFISH, HOMOLOG OF)
Molecular Tests VSX1 (VISUAL SYSTEM HOMEOBOX GENE 1, KERATOCONUS 1, KTCN1 1160
Molecular Tests VSX2 (VISUAL SYSTEM HOMEOBOX GENE 2, MICROPHTHALMIA 1170
Molecular Tests VWF (VON WILLEBRAND FACTOR) VON WILLEBRAND DISEASE, TYPE NORMANDY 2110
Molecular Tests VWF (VON WILLEBRAND FACTOR) VON WILLEBRAND DISEASE, TYPE NORMANDY 700
Molecular Tests WAS (WASP) NEUTROCYTOPENIA (X-LINKED) 1060
Molecular Tests WAS (WASP) WISKOTT-ALDRICH SYNDROME, WAS 1060
Molecular Tests WAS (WASP) THROMBOCYTOPENIA (X-LINKED) 1060
Molecular Tests WDR36 (WD40-REPEAT 36) GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, POAG 1110
Molecular Tests WDR62 (WD REPEAT-CONTAINING PROTEIN 62; MICROCEPHALY, PRIMARY, TYPE 2, WITH OR WITHOUT CORTICAL 2620
C19ORF14) MALFORMATIONS, (AUTOSOMAL RECESSIVE), MCPH2
Molecular Tests WFS1 (WOLFRAMIN ) WOLFRAM SYNDROME 710
» DIABETES INSIPIDUS AND MELLITUS WITH OPTIC ATROPHY AND DEAFNESS,

DIDMOAD
Molecular Tests WFS1 (WOLFRAMIN ) WOLFRAM SYNDROME 610
» DIABETES INSIPIDUS AND MELLITUS WITH OPTIC ATROPHY AND DEAFNESS,

DIDMOAD
Molecular Tests WFS1 (WOLFRAMIN ) DEAFNESS, DFNA6 710

Molecular Tests WFS1 (WOLFRAMIN ) DEAFNESS, DFNA6 610

Molecular Tests WISP3 (WNT1-INDUCIBLE SIGNALING PATHWAY ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD 710
PROTEIN 3)
» SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY
Molecular Tests WNK4 (PROTEIN KINASE, LYSINE-DEFICIENT 4) PSEUDOHYPOALDOSTERONISM, TYPE 2 1360

» HYPERPOTASSEMIA AND HYPERTENSION, FAMILIAL
» HYPERTENSIVE HYPERKALEMIA, FAMILIAL
» GORDON HYPERKALEMIA-HYPERTENSION SYNDROME
Molecular Tests WNT10A (WINGLESS-TYPE MMTV INTEGRATION SITE SCHOPF-SCHULZ-PASSARGE SYNDROME 1260
FAMILY, MEMBER 10A) » KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND
HYPOTRICHOSIS
Molecular Tests WNT10A (WINGLESS-TYPE MMTV INTEGRATION SITE ODONTOONYCHODERMAL DYSPLASIA 1260
FAMILY, MEMBER 10A)
Molecular Tests WNT3 (WINGLESS-TYPE MMTV INTEGRATION SITE TETRA-AMELIA (AUTOSOMAL RECESSIVE) 1010
FAMILY, MEMBER 3)
Molecular Tests WNT7A (WINGLESS-TYPE MMTV INTEGRATION SITE FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND 910
FAMILY, MEMBER 7A) OLIGODACTYLY
» FUHRMANN SYNDROME
Molecular Tests WNT7A (WINGLESS-TYPE MMTV INTEGRATION SITE ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY 910
FAMILY, MEMBER 7A) » LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME
» AL-AWADI/RAAS-ROTHSCHILD SYNDROME
» SCHINZEL PHOCOMELIA SYNDROME
Molecular Tests WT1 (WILMS TUMOR 1 GENE) FRASIER SYNDROME 910
Molecular Tests WT1 (WILMS TUMOR 1 GENE) FRASIER SYNDROME 660
Molecular Tests WT1 (WILMS TUMOR 1 GENE) WILMS TUMOR 1 910
Molecular Tests WT1 (WILMS TUMOR 1 GENE) » NEPHROBLASTOMA

WILMS TUMOR 1 610
Molecular Tests WT1 (WILMS TUMOR 1 GENE) » NEPHROBLASTOMA

DENYS-DRASH SYNDROME 910
Molecular Tests WT1 (WILMS TUMOR 1 GENE) » WILMS TUMOR

DENYS-DRASH AND PSEUDOHERMAPHRODITISM
SYNDROME 610
Molecular Tests WT1 (WILMS TUMOR 1 GENE) » WILMS TUMOR

NEPHROTIC AND PSEUDOHERMAPHRODITISM
SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS 910
» MESANGIAL SCLEROSIS, FAMILIAL

Molecular Tests WT1 (WILMS TUMOR 1 GENE) NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS 610
» MESANGIAL SCLEROSIS, FAMILIAL

Molecular Tests X-INACTIVATION STUDIES X-LINKED DISORDERS 810
Molecular Tests XLRS1 (RS1, RETINOSCHISIN) RETINOSCHISIS 1 (X-LINKED), JUVENILE, RS1 790
Molecular Tests XPA XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A, XPA 2090
Molecular Tests XPC XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C, XPC 2710
Molecular Tests YARS2 (TYROSYL-tRNA SYNTHETASE 2) MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA, TYPE 2 890
Molecular Tests ZAP70 (ZETA-CHAIN-ASSOCIATED PROTEIN SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO 1560
KINASE, SYK-RELATED TYROSINE KINASE)
Molecular Tests ZEB2 (ZINC FINGER HOMEOBOX 1B; ZFHX1B, SMAD- HIRSCHSPRUNG DISEASE-MENTAL RETARDATION SYNDROME, LATE INFANTILE 860
INTERACTING PROTEIN 1, SMADIP1, SIP1)
Molecular Tests ZEB2 (ZINC FINGER HOMEOBOX 1B; ZFHX1B, SMAD- MOWAT-WILSON SYNDROME 860
INTERACTING PROTEIN 1, SMADIP1, SIP1)
» MICROCEPHALY, MENTAL RETARDATION, AND DISTINCT FACIAL FEATURES,
WITH OR WITHOUT HIRSCHSPRUNG DISEASE
Molecular Tests ZFYVE26 (ZINC FINGER FYVE DOMAIN-CONTAINING FAMILIAL SPASTIC PARAPLEGIA 15 (AUTOSOMAL RECESSIVE), SPG15 3110
PROTEIN 26; SPASTIZIN) » SPASTIC PARAPLEGIA AND RETINAL DEGENERATION
Molecular Tests ZIC2 (ZINC FINGER PROTEIN OF CEREBELLUM, 2) 1060
Molecular Tests ZIC3 TRANSPOSITION OF GREAT ARTERIES (X-LINKED) 860
Molecular Tests ZIC3 CONGENITAL HEART DISEASE (X-LINKED) 860
Molecular Tests ZIC3 HETEROTAXY, VISCERAL (X-LINKED) 860
Molecular Tests ZMPSTE24 (ZINC METALLOPROTEINASE STE24) » SITUSSKIN

TIGHT INVERSUS (X-LINKED)
CONTRACTURE SYNDROME, LETHAL 1055
» HYPERKERATOSIS-CONTRACTURE SYNDROME
» RESTRICTIVE DERMOPATHY, LETHAL
» FETAL HYPOKINESIA SEQUENCE DUE TO RESTRICTIVE DERMOPATHY
Molecular Tests ZMPSTE24 (ZINC METALLOPROTEINASE STE24) MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 1055
» LIPODYSTROPHY, TYPE B, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA
Molecular Tests ZNF41 (ZINC FINGER PROTEIN 41) MENTAL RETARDATION, NONSPECIFIC (X-LINKED) 1160
Molecular Tests ZNF513 (ZINC FINGER PROTEIN 513) RETINITIS PIGMENTOSA, TYPE 58, RP58 840
Molecular Tests ZNF9 MYOTONIC DYSTROPHY, TYPE 2 760
» PROXIMAL MYOTONIC MYOPATHY, PROMM
» MYOTONIC MYOPATHY, PROXIMAL
CANCER RISK TESTS
Category Disease Number of Genes
Cancer Risk Tests COMPREHENSIVE HEREDITARY CANCER 116
Cancer Risk Tests BREAST, OVARIAN, COLORECTAL 30

CANCER
Cancer Risk Tests BREAST AND OVARIAN CANCER 12
Cancer Risk Tests COLON CANCER 6
Cancer Risk Tests GASTROINTESTINAL CANCER 38
Cancer Risk Tests LEUKEMIA 25
Cancer Risk Tests LUNG CANCER 4
Cancer Risk Tests MELANOMA AND SKIN CANCER 19
Cancer Risk Tests PANCREATIC CANCER 22
Cancer Risk Tests PARAGANGLIOMA- 11

PHEOCHROMOCYTOMA
Cancer Risk Tests RENAL CANCER (PANEL 1) 25
Cancer Risk Tests RENAL CANCER (PANEL 2) 19

Cancer Risk Tests THYROID CANCER 11
Cancer Risk Tests NEUROFIBROMATOSIS 7
Cancer Risk Tests TUBEROUS SCLEROSIS 2
Cancer Risk Tests XERODERMA PIGMENTOSUM (PANEL 1) 7
Cancer Risk Tests XERODERMA PIGMENTOSUM (PANEL 2) 9

CANCER RISK TESTS
Genes
AIP, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1,
BRCA2, BRIP1, BUB1B, CDC73, CDH1, CDK4, CDKN1B, CDKN1C,
CDKN2A, CEBPA, CEP57, CHEK2, CYLD, DDB2, DICER1, DIS3L2,
DKC1, EGFR, ELANE, EPCAM, ERCC2, ERCC3, ERCC4, ERCC5, EXO1,
EXT1, EXT2, EZH2, FANCA, FANCB, FANCC, FANCD2, FANCE,
FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GATA2, GPC3,
GREM1, HNF1A, HOXB13, HRAS, KIT, KRAS, MAX, MEN1, MET,
MITF, MLH1, MLH3, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, NF2,
NSD1, PALB2, PHOX2B, PMS1, PMS2, POLD1, POLE, PPM1D, PRF1,
PRKAR1A, PTCH1, PTEN, PTPN11, RAD50, RAD51C, RAD51D, RB1,
RECQL4, RET, RHBDF2, RUNX1, SBDS, SDHA, SDHAF2, SDHB,
SDHC, SDHD, SLX4, SMAD4, SMARCB1, STK11, SUFU, TERC, TERT,
TINF2, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC,
XRCC2
BRCA1, BRCA2, APC, ATM, BAP1, BARD1, BMPR1A, BRIP1, CDH1,

CDKN2A CDK4, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MITF,
MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D,
SMAD4, STK11, TP53
BRCA1, BRCA2, CHEK2, BRIP1, BARD1, CDH1, TP53, PTEN, RAD51C,

MRE11A, NBN, ATM
APC, MUTYH, MLH1, MSH2, MSH6, PMS1, PMS2, EPCAM, BMPR1A,
SMAD4, STK11, PTEN
APC, ATM, AXIN2, BLM, BMPR1A, BRCA1, BRCA2, BUB1B, CDH1,
CDKN2A, EPCAM, FANCC, GREM1, HNF1A, KIT, MEN1, MLH1,
MSH2, MSH6, MUTYH, NF1, PALB2, PMS2, POLD1, POLE, PTEN,
RHBDF2, SDHB, SDHC, SDHD, SMAD4, SMARCB1, STK11, TMEM127,
TP53, TSC1, TSC2, VHL
ATM, BLM, BRCA2, CDKN2A, CEBPA, DKC1, ELANE, FANCA,

GATA2, HRAS, KRAS, MLH1, MSH2, MSH6, NBN, NF1, NRAS, PMS2,
PTPN11, RUNX1, SBDS, TERC, TERT, TINF2, TP53
BRCA2, CDKN2A, EGFR, TP53
BAP1, BRCA1, BRCA2, CDK4, CDKN2A, DDB2, ERCC2, ERCC3,

ERCC4, ERCC5, MITF, PTCH1, PTEN, RB1, SUFU, TP53, WRN, XPA,
XPC
APC, ATM, BMPR1A, BRCA1, BRCA2, BUB1B, CDKN2A, EPCAM,
FANCC, MEN1, MLH1, MSH2, MSH6, NF1, PALB2, PMS2, SMAD4,
STK11, TP53, TSC1, TSC2, VHL
FH, MAX, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127,
VHL
BAP1, CDC73, CDKN1C, DICER1, DIS3L2, EPCAM, FH, FLCN, GPC3,
HNF1A, MET, MLH1, MSH2, MSH6, PMS2, PTEN, SDHB, SDHC, SDHD,
SMARCB1, TP53, TSC1, TSC2, VHL, WT1
BAP1, FH, FLCN, MET, MITF, MLH1, MSH2, MSH6, PMS2, PTEN,
SDHA, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL, EPCAM
(Deletion/Duplication Testing only)
APC, CDC73, DICER1, MEN1, PRKAR1A, PTEN, RET, SDHB, SDHD,
TP53, WRN
KIT, NF1, NF2, PTPN11, RAF1, SMARCB1, SPRED1
TSC1, TSC2
DDB2, ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC
DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC

Test Specification Pret
Sequencing and Deletion-Duplication Testing of all Genes 1600
Sequencing 990
Sequencing and Deletion-Duplication Testing of all Genes

1600
1600
1600
1600
1600
Sequencing of 18 Genes and Deletion-Duplication Testing of 19
Genes
2160
1600
1600
1600
1600
Sequencing
2060
WHOLE EXOME SEQUENCING (W
Category Test Number of Genes
Whole Exome Sequencing WHOLE EXOME (PANEL 1: PATIENT ONLY) +/- 23.000
(WES)
Whole Exome Sequencing WHOLE EXOME (PANEL 2: TRIO OF PATIENT and +/- 23.000
(WES) 2 PARENTS)
Whole Exome Sequencing WHOLE EXOME (PANEL 3: 2 SIBLINGs and 2 +/- 23.000
(WES) PARENTS)
Whole Exome Sequencing WHOLE EXOME (PANEL 4: 3 AFFECTED FAMILY +/- 23.000
(WES) MEMBERS)
Whole Exome Sequencing WHOLE GENOME (PANEL 1: PATIENT ONLY) +/- 23.000
(WES)
Whole Exome Sequencing WHOLE GENOME (PANEL 2: TRIO OF PATIENT +/- 23.000
(WES) and 2 PARENTS)
XOME SEQUENCING (WES)
Genes Test Specification Pret
WHOLE EXOME WES of patient only

1810
WHOLE EXOME WES of trio analysis of patient and 2 parents to detect de novo variants
2810
WHOLE EXOME WES of 2 sibs and 2 parents to detect autosomal recessive variants
3010
WHOLE EXOME WES of 3 affected family members to detect autosomal dominant variants
3010
WHOLE GENOME SEQUENCING WGS of patient only
(WGS) WITH GENOME-WIDE
MICROARRAY TESTING WITH
WHOLE MITOCHONDRIAL
GENOME SEQUENCING
2910
WHOLE GENOME SEQUENCING WGS TRIO analysis of patient and 2 parents
(WGS) WITH GENOME-WIDE
MICROARRAY TESTING WITH
WHOLE MITOCHONDRIAL
GENOME SEQUENCING
5260
NON INVASIVE PRENATAL TEST (NIPT)
Category Test
Non Invasive Prenatal Test (NIPT) NON INVASIVE PRENATAL TEST
(NIPT)
SIVE PRENATAL TEST (NIPT)
Comment Test Specification Pret

At least 10ml maternal blood in STRECK tubes is required. Maternal Blood in STRECK Tubes
760
NON INVASIVE PRENATAL
TEST (NIPT)
Category Test Pret

Non Invasive Prenatal DIAGNOSIS (NIPD) FOR CYSTIC
Diagnosis (NIPD FIBROSIS 1710
Non Invasive Prenatal DIAGNOSIS (NIPD) FOR
Diagnosis (NIPD ACHONDROPLASIA 1710
Non Invasive Prenatal DIAGNOSIS (NIPD) FOR
Diagnosis (NIPD CRANIOSYNOSTOSIS 1710
Non Invasive Prenatal DIAGNOSIS (NIPD) FOR APERT
Diagnosis (NIPD SYNDROME 1710
DIAGNOSIS (NIPD) FOR
Non Invasive Prenatal CROUZON SYNDROME WITH
Diagnosis (NIPD ACANTHOSIS NIGRICANS 1710
NON INVASIVE RHESUS D TEST (NIRT)
Category
Non Invasive RhesusD Test (NIRT)
SIVE RHESUS D TEST (NIRT)
Test Pret
NON INVASIVE RHESUS D TEST (NIRT) 600
NEXT GENERATION SANGER SEQUEN
Category Disease Disease Number of

Category Genes
Next Generation and Sanger Sequencing Cancer COMPREHENSIVE HEREDITARY 116

Platforms (NGS) CANCER
Next Generation and Sanger Sequencing Cancer BREAST, OVARIAN, COLORECTAL 30

Platforms (NGS) CANCER
Next Generation and Sanger Sequencing Cancer BREAST AND OVARIAN CANCER 12
Platforms (NGS)
Next Generation and Sanger Sequencing Cancer COLON CANCER 6
Platforms (NGS)
Next Generation and Sanger Sequencing Cancer GASTROINTESTINAL CANCER 38
Platforms (NGS)
Next Generation and Sanger Sequencing Cancer LEUKEMIA 25

Platforms (NGS)
Next Generation and Sanger Sequencing Cancer LUNG CANCER 4

Platforms (NGS)
Next Generation and Sanger Sequencing Cancer MELANOMA AND SKIN CANCER 19
Platforms (NGS)
Next Generation and Sanger Sequencing Cancer PANCREATIC CANCER 22
Platforms (NGS)
Next Generation and Sanger Sequencing Cancer PARAGANGLIOMA- 11

Platforms (NGS) PHEOCHROMOCYTOMA
Next Generation and Sanger Sequencing Cancer PEDIATRIC CANCER 52
Platforms (NGS)
Next Generation and Sanger Sequencing Cancer RENAL CANCER (PANEL 1) 25
Platforms (NGS)
Next Generation and Sanger Sequencing Cancer RENAL CANCER (PANEL 2) 19

Platforms (NGS)
Next Generation and Sanger Sequencing Cancer THYROID CANCER 11

Platforms (NGS)
Next Generation and Sanger Sequencing Cancer NEUROFIBROMATOSIS 7
Platforms (NGS)
Next Generation and Sanger Sequencing Cancer TUBEROUS SCLEROSIS 2
Platforms (NGS)
Next Generation and Sanger Sequencing Cancer XERODERMA PIGMENTOSUM 7
Platforms (NGS) (PANEL 1)
Next Generation and Sanger Sequencing Cancer XERODERMA PIGMENTOSUM 9
Next Generation and Sanger Sequencing Cardiology COMPREHENSIVE CARDIOLOGY 165
Platforms (NGS)
Next Generation and Sanger Sequencing Cardiology AORTA ANOMALIES 37

Platforms (NGS)
Next Generation and Sanger Sequencing Cardiology ARRHYTHMIA 50

Platforms (NGS)
Next Generation and Sanger Sequencing Cardiology ARRHYTHMOGENIC RIGHT 14

Platforms (NGS) VENTRICULAR
CARDIOMYOPATHY (ARVC)
Next Generation and Sanger Sequencing Cardiology ATRIAL FIBRILLATION 22
Platforms (NGS)
Next Generation and Sanger Sequencing Cardiology BRUGADA SYNDROME 11

Platforms (NGS)
Next Generation and Sanger Sequencing Cardiology CARDIOMYOPATHY 134
Platforms (NGS)
Next Generation and Sanger Sequencing Cardiology CATECHOLAMINERGIC 7

Platforms (NGS) POLYMORPHIC VENTRICULAR
TACHYCARDIA (CPVT)
Next Generation and Sanger Sequencing Cardiology CONGENITAL HEART 28
Platforms (NGS) MALFORMATION
Next Generation and Sanger Sequencing Cardiology CONGENITAL HEART 18

Platforms (NGS) MALFORMATION (PANEL 2)
Next Generation and Sanger Sequencing Cardiology CONNECTIVE TISSUE DISORDERS 22
Platforms (NGS)
Next Generation and Sanger Sequencing Cardiology DILATED CARDIOMYOPATHY 27

Platforms (NGS) (DCM)
Next Generation and Sanger Sequencing Cardiology EHLERS-DANLOS SYNDROME 33

Platforms (NGS)
Next Generation and Sanger Sequencing Cardiology EHLERS-DANLOS SYNDROME 11

Next Generation and Sanger Sequencing Cardiology HYPERLIPIDEMIA 11
Platforms (NGS)
Next Generation and Sanger Sequencing Cardiology LEFT VENTRICULAR NON- 29
Platforms (NGS) COMPACTION
CARDIOMYOPATHY (LVNC)
Next Generation and Sanger Sequencing Cardiology LIDDLE SYNDROME 2
Platforms (NGS)
Next Generation and Sanger Sequencing Cardiology LONG QT SYNDROME (LQTS) 15
Platforms (NGS)
Next Generation and Sanger Sequencing Cardiology NOONAN SYNDROME 19
Platforms (NGS)
Next Generation and Sanger Sequencing Cardiology PULMONARY ARTERY 11
Platforms (NGS) HYPERTENSION (PAH)
Next Generation and Sanger Sequencing Cardiology SHORT QT SYNDROME (SQTS) 5
Platforms (NGS)
Next Generation and Sanger Sequencing Cardiology SUDDEN DEATH 154
Platforms (NGS)
Next Generation and Sanger Sequencing Dermatolo ADAMS-OLIVER SYNDROME 6

Platforms (NGS) gy
Next Generation and Sanger Sequencing Dermatolo ALBINISM 19
Platforms (NGS) gy
Next Generation and Sanger Sequencing Dermatolo CUTIS LAXA 8
Platforms (NGS) gy
Next Generation and Sanger Sequencing Dermatolo CUTIS LAXA (PANEL 2) 13
Platforms (NGS) gy
Next Generation and Sanger Sequencing Dermatolo DYSKERATOSIS CONGENITA 11
Platforms (NGS) gy
Next Generation and Sanger Sequencing Dermatolo ECTODERMAL DYSPLASIA 19
Platforms (NGS) gy
Next Generation and Sanger Sequencing Dermatolo EHLERS-DANLOS SYNDROME 33
Platforms (NGS) gy
Next Generation and Sanger Sequencing Dermatolo EPIDERMOLYSIS BULLOSA 25

Platforms (NGS) gy
Next Generation and Sanger Sequencing Dermatolo EPIDERMOLYSIS BULLOSA 21

Platforms (NGS) gy (PANEL 2)
Next Generation and Sanger Sequencing Dermatolo HERMANSKY-PUDLAK 22

Platforms (NGS) gy SYNDROME
Next Generation and Sanger Sequencing Dermatolo ICHTHYOSIS 19

Platforms (NGS) gy
Next Generation and Sanger Sequencing Dermatolo NEUROFIBROMATOSIS 7
Platforms (NGS) gy
Next Generation and Sanger Sequencing Dermatolo PACHYONYCHIA CONGENITA 8
Platforms (NGS) gy
Next Generation and Sanger Sequencing Dermatolo PROGERIA AND PROGEROID 16
Platforms (NGS) gy SYNDROMES
Next Generation and Sanger Sequencing Dermatolo WAARDENBURG SYNDROME 6
Platforms (NGS) gy
Next Generation and Sanger Sequencing Ear-Nose- COMPREHENSIVE HEARING LOSS 158
Platforms (NGS) Throat
Next Generation and Sanger Sequencing Ear-Nose- ALPORT SYNDROME 6

Next Generation and Sanger Sequencing Ear-Nose- BRANCHIO-OTO-RENAL (BOR) 4

Platforms (NGS) Throat SYNDROME
Next Generation and Sanger Sequencing Ear-Nose- HEREDITARY HEMORRHAGIC 4

Platforms (NGS) Throat TELANGIECTASIA (HHT)
Next Generation and Sanger Sequencing Ear-Nose- NON-SYNDROMIC HEARING LOSS 93

Next Generation and Sanger Sequencing Ear-Nose- PENDRED SYNDROME 3

Next Generation and Sanger Sequencing Ear-Nose- SYNDROMIC HEARING LOSS 70

Next Generation and Sanger Sequencing Ear-Nose- USHER SYNDROME 13

Next Generation and Sanger Sequencing Ear-Nose- WAARDENBURG SYNDROME 6

Next Generation and Sanger Sequencing Endocrinol ABNORMAL GENITALIA/ 39
Platforms (NGS) ogy DISORDERS OF SEX
DEVELOPMENT
Next Generation and Sanger Sequencing Endocrinol CONGENITAL ADRENAL 7

Platforms (NGS) ogy HYPERPLASIA
Next Generation and Sanger Sequencing Endocrinol GLUCOCORTICOID DEFICIENCY 6
Platforms (NGS) ogy
Next Generation and Sanger Sequencing Endocrinol HYPERPARATHYROIDISM 6
Platforms (NGS) ogy
Next Generation and Sanger Sequencing Endocrinol HYPOGLYCEMIA, 18
Platforms (NGS) ogy HYPERINSULINISM AND KETONE
METABOLISM
Next Generation and Sanger Sequencing Endocrinol HYPOMAGNESEMIA 17
Platforms (NGS) ogy
Next Generation and Sanger Sequencing Endocrinol HYPOTHYROIDISM AND 17
Platforms (NGS) ogy RESISTANCE TO THYROID
HORMONE
Next Generation and Sanger Sequencing Endocrinol KALLMANN SYNDROME 8
Platforms (NGS) ogy
Next Generation and Sanger Sequencing Endocrinol MODY 12
Platforms (NGS) ogy
Next Generation and Sanger Sequencing Endocrinol MONOGENIC DIABETES 25
Platforms (NGS) ogy MELLITUS
Next Generation and Sanger Sequencing Endocrinol MONOGENIC OBESITY 36

Platforms (NGS) ogy
Next Generation and Sanger Sequencing Endocrinol PREMATURE OVARIAN FAILURE 13

Platforms (NGS) ogy
Next Generation and Sanger Sequencing Endocrinol PREMATURE OVARIAN FAILURE 17
Platforms (NGS) ogy (PANEL 2)
Next Generation and Sanger Sequencing Gastroente CHOLESTASIS 31
Platforms (NGS) rology
Next Generation and Sanger Sequencing Gastroente CHOLESTASIS (PANEL 2) 15

Next Generation and Sanger Sequencing Gastroente CONGENITAL DIARRHEA 9

Next Generation and Sanger Sequencing Gastroente CONGENITAL HEPATIC FIBROSIS 29

Next Generation and Sanger Sequencing Gastroente GASTROINTESTINAL ATRESIA 7

Next Generation and Sanger Sequencing Gastroente HIRSCHSPRUNG DISEASE 9

Next Generation and Sanger Sequencing Gastroente PANCREATITIS 5

Next Generation and Sanger Sequencing Gastroente POLYCYSTIC LIVER DISEASE 5
Next Generation and Sanger Sequencing Hematolog COMPREHENSIVE HEMATOLOGY 175

Platforms (NGS) y
Next Generation and Sanger Sequencing Hematolog ANEMIA 68

Platforms (NGS) y
Next Generation and Sanger Sequencing Hematolog BLEEDING 54

Platforms (NGS) y DISORDER/COAGULOPATHY
Next Generation and Sanger Sequencing Hematolog BLOOM SYNDROME 1

Platforms (NGS) y
Next Generation and Sanger Sequencing Hematolog BONE MARROW FAILURE 93
Platforms (NGS) y SYNDROME
Next Generation and Sanger Sequencing Hematolog COAGULATION FACTOR 16

Platforms (NGS) y DEFICIENCY
Next Generation and Sanger Sequencing Hematolog CONGENITAL NEUTROPENIA 13
Platforms (NGS) y
Next Generation and Sanger Sequencing Hematolog DIAMOND-BLACKFAN ANEMIA 12
Platforms (NGS) y
Next Generation and Sanger Sequencing Hematolog DYSKERATOSIS CONGENITA 11
Platforms (NGS) y
Next Generation and Sanger Sequencing Hematolog FANCONI ANEMIA 22
Platforms (NGS) y
Next Generation and Sanger Sequencing Hematolog HEMOPHAGOCYTIC 13
Platforms (NGS) y LYMPHOHISTIOCYTOSIS
Next Generation and Sanger Sequencing Hematolog HEREDITARY LEUKEMIA 25
Platforms (NGS) y
Next Generation and Sanger Sequencing Hematolog HERMANSKY-PUDLAK 22

Next Generation and Sanger Sequencing Hematolog NEUTROPENIA 8

Platforms (NGS) y
Next Generation and Sanger Sequencing Hematolog PLATELET FUNCTION DISORDER 18
Platforms (NGS) y
Next Generation and Sanger Sequencing Hematolog RED BLOOD CELL MEMBRANE 5
Platforms (NGS) y DISORDER
Next Generation and Sanger Sequencing Hematolog THROMBOCYTOPENIA 25
Platforms (NGS) y
Next Generation and Sanger Sequencing Immunolo COMPREHENSIVE PRIMARY 232

Platforms (NGS) gy IMMUNODEFICIENCY
Next Generation and Sanger Sequencing Immunolo AUTOINFLAMMATORY 25

Next Generation and Sanger Sequencing Immunolo BONE MARROW FAILURE 93

Next Generation and Sanger Sequencing Immunolo CHRONIC GRANULOMATOUS 7

Platforms (NGS) gy DISEASE
Next Generation and Sanger Sequencing Immunolo COMPLEMENT SYSTEM 82
Platforms (NGS) gy DISORDER
Next Generation and Sanger Sequencing Immunolo CONGENITAL NEUTROPENIA 13

Platforms (NGS) gy
Next Generation and Sanger Sequencing Immunolo DYSKERATOSIS CONGENITA 11
Platforms (NGS) gy
Next Generation and Sanger Sequencing Immunolo SEVERE COMBINED 68
Platforms (NGS) gy IMMUNODEFICIENCY
Next Generation and Sanger Sequencing Malformati COMPREHENSIVE CONGENITAL 429

Platforms (NGS) ons MALFORMATION AND SKELETAL
DYSPLASIA
Next Generation and Sanger Sequencing Malformati ACHONDROGENESIS, 5

Platforms (NGS) ons HYPOCHONDROGENESIS,
FIBROCHONDROGENESIS
Next Generation and Sanger Sequencing Malformati ADAMS-OLIVER SYNDROME 6
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati ARTHROGRYPOSES 58
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati BRACHYDACTYLY / 12

Platforms (NGS) ons SYNDACTYLY
Next Generation and Sanger Sequencing Malformati BRUCK SYNDROME 2
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati CEREBRAL CAVERNOUS 4
Platforms (NGS) ons MALFORMATION
Next Generation and Sanger Sequencing Malformati CHONDRODYSPLASIA PUNCTATA 7
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati COCKAYNE SYNDROME 2
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati CRANIOSYNOSTOSIS 34
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati DENTINOGENESIS IMPERFECTA, 4

Platforms (NGS) ons DENTIN DYSPLASIA, TOOTH
AGENESIS
Next Generation and Sanger Sequencing Malformati DWARFISM 15
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati ECTRODACTYLY 4
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati FACIAL DYSOSTOSIS 29
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati FETAL AKINESIA 10

Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati GASTROINTESTINAL ATRESIA 7
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati HETEROTAXY / SITUS INVERSUS 25
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati HIRSCHSPRUNG DISEASE 9

Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati HOLOPROSENCEPHALY 12
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati KABUKI SYNDROME 7
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati LISSENCEPHALY 15
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati MACROCEPHALY / 38
Platforms (NGS) ons OVERGROWTH SYNDROME
Next Generation and Sanger Sequencing Malformati MEIER-GORLIN SYNDROME 5

Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati METAPHYSEAL DYSPLASIA 10
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati MICROCEPHALY AND 34
Platforms (NGS) ons PONTOCEREBELLAR
HYPOPLASIA
Next Generation and Sanger Sequencing Malformati MICROMELIC DYSPLASIA 24

Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati MULTIPLE SYNOSTOSES AND 6

Platforms (NGS) ons SYMPHALANGISM
Next Generation and Sanger Sequencing Malformati NEUROFIBROMATOSIS 7
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati NEURONAL MIGRATION 47
Platforms (NGS) ons DISORDER
Next Generation and Sanger Sequencing Malformati OSTEOGENESIS IMPERFECTA 61

Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati OSTEOLYSIS 7

Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati OSTEOPETROSIS 21
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati OSTEOPETROSIS (PANEL 2) 6

Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati OSTEOPETROSIS (PANEL 3) 6
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati OSTEOPOROSIS 3
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati PATELLAR DYSOSTOSES 3
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati POLYDACTYLY - SYNDACTYLY - 6
Platforms (NGS) ons TRIPHALANGISM
Next Generation and Sanger Sequencing Malformati POLYMICROGYRIA 14
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati PSEUDOXANTHOMA ELASTICUM 4
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati RHEUMATOID-LIKE 7
Platforms (NGS) ons OSTEOARTHROPATHIES
Next Generation and Sanger Sequencing Malformati SECKEL SYNDROME 6
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati SEPTO-OPTIC DYSPLASIA 4
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati SEX DEVELOPMENT DISORDERS 29
Platforms (NGS) ons (DSD), HERMAPHRODITISM
Next Generation and Sanger Sequencing Malformati SHORT RIB DYSPLASIA / 15

Platforms (NGS) ons ASPHYXIATING THORACIC
DYSPLASIA
Next Generation and Sanger Sequencing Malformati SHORT STATURE 61
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati SKELETAL DYSPLASIA WITH 27

Platforms (NGS) ons ABNORMAL MINERALIZATION
Next Generation and Sanger Sequencing Malformati SPONDYLOMETAPHYSEAL / 18
Platforms (NGS) ons SPONDYLOEPI-(META)-PHYSEAL
DYSPLASIA
Next Generation and Sanger Sequencing Malformati STICKLER SYNDROME 8
Platforms (NGS) ons
Next Generation and Sanger Sequencing Malformati WARBURG MICRO SYNDROME 3
Platforms (NGS) ons
Next Generation and Sanger Sequencing Metabolic COMPREHENSIVE METABOLISM 354
Platforms (NGS) Disorders
Next Generation and Sanger Sequencing Metabolic AICARDI-GOUTIÈRES SYNDROME 7

Next Generation and Sanger Sequencing Metabolic COENZYME Q10 DEFICIENCY 11

Next Generation and Sanger Sequencing CONGENITAL DISORDERS OF 47

Platforms (NGS) GLYCOSYLATION
Next Generation and Sanger Sequencing Metabolic CREATINE METABOLISM 6

Platforms (NGS) Disorders DEFICIENCY
Next Generation and Sanger Sequencing Metabolic CYSTINURIA 2

Next Generation and Sanger Sequencing Metabolic FATTY ACID OXIDATION 25

Platforms (NGS) Disorders SYNDROME
Next Generation and Sanger Sequencing Metabolic GLYCOGEN STORAGE DISORDER 29

Next Generation and Sanger Sequencing Metabolic HEMOCHROMATOSIS 5
Next Generation and Sanger Sequencing Metabolic HYPERLIPIDEMIA 11

Next Generation and Sanger Sequencing Metabolic HYPERLIPIDEMIA (PANEL 2) 11

Next Generation and Sanger Sequencing Metabolic HYPERPHENYLALANINEMIA 5

Next Generation and Sanger Sequencing Metabolic HYPOGLYCEMIA, 18

Platforms (NGS) Disorders HYPERINSULINISM AND KETONE
METABOLISM
Next Generation and Sanger Sequencing Metabolic HYPOMAGNESEMIA 17

Next Generation and Sanger Sequencing Metabolic LIPODYSTROPHY 10

Next Generation and Sanger Sequencing Metabolic LYSOSOMAL DISORDERS AND 99

Platforms (NGS) Disorders MUCOPOLYSACCHARIDOSIS
Next Generation and Sanger Sequencing Metabolic METABOLIC MYOPATHY AND 40

Platforms (NGS) Disorders RHABDOMYOLYSIS
Next Generation and Sanger Sequencing Metabolic MITOCHONDRIAL DISEASE 37

Next Generation and Sanger Sequencing Metabolic MITOCHONDRIAL DNA 25

Platforms (NGS) Disorders DEPLETION SYNDROME
Next Generation and Sanger Sequencing Metabolic MITONUCLEAR GENES 132
Next Generation and Sanger Sequencing Metabolic OBESITY 36

Next Generation and Sanger Sequencing Metabolic ORGANIC ACIDEMIA/ACIDURIA & 32

Platforms (NGS) Disorders COBALAMIN DEFICIENCY
Next Generation and Sanger Sequencing Metabolic PERIODIC PARALYSIS 4

Next Generation and Sanger Sequencing Metabolic PEROXISOMAL DISORDERS 18

Next Generation and Sanger Sequencing Metabolic PORPHYRIA 9

Next Generation and Sanger Sequencing Nephrolog ALPORT SYNDROME 6

Platforms (NGS) y
Next Generation and Sanger Sequencing Nephrolog BARDET-BIEDL SYNDROME 18
Platforms (NGS) y
Next Generation and Sanger Sequencing Nephrolog BARTTER SYNDROME 8
Platforms (NGS) y
Next Generation and Sanger Sequencing Nephrolog BRANCHIO-OTO-RENAL (BOR) 4
Next Generation and Sanger Sequencing Nephrolog CILIOPATHY 83
Platforms (NGS) y
Next Generation and Sanger Sequencing Nephrolog CYSTIC KIDNEY DISEASE 9

Platforms (NGS) y
Next Generation and Sanger Sequencing Nephrolog DIABETES INSIPIDUS 3
Platforms (NGS) y
Next Generation and Sanger Sequencing Nephrolog HEMOLYTIC UREMIC SYNDROME 13
Platforms (NGS) y
Next Generation and Sanger Sequencing Nephrolog HYPOMAGNESEMIA 17
Platforms (NGS) y
Next Generation and Sanger Sequencing Nephrolog HYPOPHOSPHATEMIC RICKETS 10
Platforms (NGS) y
Next Generation and Sanger Sequencing Nephrolog JOUBERT SYNDROME 29
Platforms (NGS) y
Next Generation and Sanger Sequencing Nephrolog LIDDLE SYNDROME 2

Platforms (NGS) y
Next Generation and Sanger Sequencing Nephrolog MECKEL SYNDROME 11
Platforms (NGS) y
Next Generation and Sanger Sequencing Nephrolog MONOGENIC OBESITY 36
Platforms (NGS) y
Next Generation and Sanger Sequencing Nephrolog NEPHRONOPHTHISIS 19

Platforms (NGS) y
Next Generation and Sanger Sequencing Nephrolog NEPHROTIC SYNDROME 29

Platforms (NGS) y
Next Generation and Sanger Sequencing Nephrolog POLYCYSTIC KIDNEY DISEASE 8

Platforms (NGS) y
Next Generation and Sanger Sequencing Nephrolog PRIMARY CILIARY DYSKINESIA 32
Platforms (NGS) y
Next Generation and Sanger Sequencing Nephrolog PRIMARY HYPEROXALURIA 3

Platforms (NGS) y
Next Generation and Sanger Sequencing Nephrolog PSEUDOHYPOALDOSTERONISM 9
Platforms (NGS) y
Next Generation and Sanger Sequencing Nephrolog RENAL MALFORMATION 15
Platforms (NGS) y
Next Generation and Sanger Sequencing Nephrolog RENAL TUBULAR ACIDOSIS 5
Platforms (NGS) y
Next Generation and Sanger Sequencing Nephrolog SENIOR-LOKEN SYNDROME 7
Platforms (NGS) y
Next Generation and Sanger Sequencing Neurology AMYOTROPHIC LATERAL 31
Platforms (NGS) SCLEROSIS (ALS)
Next Generation and Sanger Sequencing Neurology ATAXIA 141
Platforms (NGS)
Next Generation and Sanger Sequencing Neurology AUTISM SPECTRUM DISORDERS 13

Platforms (NGS)
Next Generation and Sanger Sequencing Neurology CEROID LIPOFUSCINOSIS AND 28
Platforms (NGS) PROGRESSIVE MYOCLONIC
EPILEPSY
Next Generation and Sanger Sequencing Neurology CHARCOT-MARIE-TOOTH 86

Platforms (NGS) NEUROPATHY
Next Generation and Sanger Sequencing Neurology COENZYME Q10 DEFICIENCY 11

Platforms (NGS)
Next Generation and Sanger Sequencing Neurology CONGENITAL 7
Platforms (NGS) HYPOVENTILATION
Next Generation and Sanger Sequencing Neurology MYASTHENIA 17
Platforms (NGS)
Next Generation and Sanger Sequencing Neurology DEMENTIA 17
Platforms (NGS)
Next Generation and Sanger Sequencing Neurology DYSTONIA 6
Platforms (NGS)
Next Generation and Sanger Sequencing Neurology EPILEPSY 194
Platforms (NGS)
Next Generation and Sanger Sequencing Neurology EPILEPTIC ENCEPHALOPATHY 83

Platforms (NGS)
Next Generation and Sanger Sequencing Neurology LEUKODYSTROPHY AND 42

Platforms (NGS) LEUKOENCEPHALOPATHY
Next Generation and Sanger Sequencing Neurology MENTAL RETARDATION 20

Platforms (NGS) (AUTOSOMAL RECESSIVE)
Next Generation and Sanger Sequencing Neurology MENTAL RETARDATION (X- 94

Platforms (NGS) LINKED)
Next Generation and Sanger Sequencing Neurology MICROCEPHALY 24

Platforms (NGS)
Next Generation and Sanger Sequencing Neurology MIGRAINE 10

Platforms (NGS)
Next Generation and Sanger Sequencing Neurology MUSCULAR DYSTROPHY 6
Platforms (NGS) (COLLAGEN TYPE VI-RELATED)
Platforms (NGS) (CONGENITAL)

Platforms (NGS) (EMERY-DREIFUSS)
Next Generation and Sanger Sequencing Neurology MUSCULAR DYSTROPHY (LIMB 33
Platforms (NGS) GIRDLE AND CONGENITAL)
Next Generation and Sanger Sequencing Neurology MUSCULAR DYSTROPHY / 51

Platforms (NGS) MYOPATHY
Next Generation and Sanger Sequencing Neurology MYASTHENIA 17

Platforms (NGS)
Next Generation and Sanger Sequencing Neurology MYASTHENIA (PANEL 2) 40
Platforms (NGS)
Next Generation and Sanger Sequencing Neurology MYOPATHY 34

Platforms (NGS)
Next Generation and Sanger Sequencing Neurology MYOPATHY (CENTRONUCLEAR) 6

Platforms (NGS)
Next Generation and Sanger Sequencing Neurology MYOPATHY (DISTAL) 18
Platforms (NGS)
Next Generation and Sanger Sequencing Neurology MYOPATHY (NEMALINE) 11
Platforms (NGS)
Next Generation and Sanger Sequencing Neurology NEURODEGENERATION WITH 7
Platforms (NGS) BRAIN IRON ACCUMULATION
(NBIA)
Next Generation and Sanger Sequencing Neurology PARKINSON DISEASE 12
Platforms (NGS)
Next Generation and Sanger Sequencing Neurology PARKINSON DISEASE (PANEL 2) 23
Platforms (NGS)
Next Generation and Sanger Sequencing Neurology PARKINSON DISEASE WITH 5

Platforms (NGS) DYSTONIA
Next Generation and Sanger Sequencing Neurology PERIODIC PARALYSIS 4
Platforms (NGS)
Next Generation and Sanger Sequencing Neurology SPASTIC PARAPLEGIA 35
Platforms (NGS)
Next Generation and Sanger Sequencing Neurology SPASTIC PARAPLEGIA (PANEL 2) 27

Platforms (NGS)
Next Generation and Sanger Sequencing Neurology SPINAL MUSCULAR ATROPHY 29

Platforms (NGS)
Next Generation and Sanger Sequencing Neurology ZELLWEGER SYNDROME 14
Platforms (NGS)
Next Generation and Sanger Sequencing Ophthalmo ACHROMATOPSIA 6
Platforms (NGS) logy
Next Generation and Sanger Sequencing Ophthalmo ALBINISM 19
Next Generation and Sanger Sequencing Ophthalmo BARDET-BIEDL SYNDROME 18
Next Generation and Sanger Sequencing Ophthalmo BRITTLE CORNEA 2
Next Generation and Sanger Sequencing Ophthalmo CATARACT 54
Next Generation and Sanger Sequencing Ophthalmo CONE ROD DYSTROPHY 32

Next Generation and Sanger Sequencing Ophthalmo CONGENITAL STATIONARY 17

Platforms (NGS) logy NIGHT BLINDNESS
Next Generation and Sanger Sequencing Ophthalmo CORNEAL DYSTROPHY 15
Next Generation and Sanger Sequencing Ophthalmo CORNEAL DYSTROPHY (PANEL 2) 20
Next Generation and Sanger Sequencing Ophthalmo ECTOPIA LENTIS 3

Next Generation and Sanger Sequencing Ophthalmo FLECKED RETINA DISORDERS 11
Next Generation and Sanger Sequencing Ophthalmo GLAUCOMA 17
Next Generation and Sanger Sequencing Ophthalmo JOUBERT SYNDROME 29
Next Generation and Sanger Sequencing Ophthalmo LEBER CONGENITAL AMAUROSIS 25

Next Generation and Sanger Sequencing Ophthalmo MACULAR DYSTROPHY 17

Next Generation and Sanger Sequencing Ophthalmo MACULAR DYSTROPHY (PANEL 21
Platforms (NGS) logy 2)
Next Generation and Sanger Sequencing Ophthalmo MICROPHTHALMIA, 32
Platforms (NGS) logy ANOPHTHALMIA AND ANTERIOR
SEGMENT DYSGENESIS
Next Generation and Sanger Sequencing Ophthalmo NEURO-OPHTHALMOLOGY 26

Next Generation and Sanger Sequencing Ophthalmo OPTIC ATROPHY 10

Next Generation and Sanger Sequencing Ophthalmo RETINAL DYSTROPHY 181
Next Generation and Sanger Sequencing Ophthalmo RETINITIS PIGMENTOSA 80


Platforms (NGS) logy (AUTOSOMAL DOMINANT)
(PANEL 3)
Platforms (NGS) logy (AUTOSOMAL RECESSIVE)
(PANEL 2)
Next Generation and Sanger Sequencing Ophthalmo RETINOBLASTOMA 1

Next Generation and Sanger Sequencing Ophthalmo SENIOR-LOKEN SYNDROME 7
Next Generation and Sanger Sequencing Ophthalmo STARGARDT DISEASE AND 13
Platforms (NGS) logy MACULAR DYSTROPHIES
Next Generation and Sanger Sequencing Ophthalmo STICKLER SYNDROME 8
Next Generation and Sanger Sequencing Ophthalmo USHER SYNDROME 13
Next Generation and Sanger Sequencing Ophthalmo USHER SYNDROME (PANEL 2) 12
Next Generation and Sanger Sequencing Ophthalmo USHER SYNDROME (PANEL 3) 20
Next Generation and Sanger Sequencing Ophthalmo VITREORETINOPATHY 17

Next Generation and Sanger Sequencing Pulmonolo COMPREHENSIVE 61
Platforms (NGS) gy PULMONOLOGY
Next Generation and Sanger Sequencing Pulmonolo BRONCHIECTASIS 15

Platforms (NGS) gy
Next Generation and Sanger Sequencing Pulmonolo CENTRAL HYPOVENTILATION 15
Platforms (NGS) gy AND APNEA
Next Generation and Sanger Sequencing Pulmonolo CYSTIC LUNG DISEASE 8
Platforms (NGS) gy
Next Generation and Sanger Sequencing Pulmonolo HERMANSKY-PUDLAK 22
Next Generation and Sanger Sequencing Pulmonolo INTERSTITIAL LUNG DISEASE 24

Platforms (NGS) gy
Next Generation and Sanger Sequencing Pulmonolo NEONATAL RESPIRATORY 5

Platforms (NGS) gy DISTRESS - SURFACTANT
DYSFUNCTION
Next Generation and Sanger Sequencing Pulmonolo PRIMARY CILIARY DYSKINESIA 32
Platforms (NGS) gy
Next Generation and Sanger Sequencing Pulmonolo PULMONARY ARTERY 11

Platforms (NGS) gy HYPERTENSION (PAH)
Next Generation and Sanger Sequencing Whole WHOLE EXOME (PANEL 1: +/- 23.000
Platforms (NGS) Exome PATIENT ONLY)
(WES)
Next Generation and Sanger Sequencing Whole WHOLE EXOME (PANEL 2: TRIO +/- 23.000
Platforms (NGS) Exome OF PATIENT and 2 PARENTS)
(WES)
Next Generation and Sanger Sequencing Whole WHOLE EXOME (PANEL 3: 2 SIBS +/- 23.000
Platforms (NGS) Exome and 2 PARENTS)
(WES)
Next Generation and Sanger Sequencing Whole WHOLE EXOME (PANEL 4: 3 +/- 23.000
Platforms (NGS) Exome AFFECTED FAMILY MEMBERS)
(WES)
Next Generation and Sanger Sequencing Whole WHOLE GENOME (PANEL 1: +/- 23.000
Platforms (NGS) Genome PATIENT ONLY)
(WGS)
Next Generation and Sanger Sequencing Whole WHOLE GENOME (PANEL 2: TRIO +/- 23.000
Platforms (NGS) Genome OF PATIENT and 2 PARENTS)
(WGS)
ON SANGER SEQUENCING PLATFORMS (NGS)
Genes
AIP, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1,
BUB1B, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2,
CYLD, DDB2, DICER1, DIS3L2, DKC1, EGFR, ELANE, EPCAM, ERCC2, ERCC3, ERCC4,
ERCC5, EXO1, EXT1, EXT2, EZH2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF,
FANCG, FANCI, FANCL, FANCM, FH, FLCN, GATA2, GPC3, GREM1, HNF1A, HOXB13,
HRAS, KIT, KRAS, MAX, MEN1, MET, MITF, MLH1, MLH3, MRE11A, MSH2, MSH6,
MUTYH, NBN, NF1, NF2, NSD1, PALB2, PHOX2B, PMS1, PMS2, POLD1, POLE, PPM1D,
PRF1, PRKAR1A, PTCH1, PTEN, PTPN11, RAD50, RAD51C, RAD51D, RB1, RECQL4,
RET, RHBDF2, RUNX1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4,
SMARCB1, STK11, SUFU, TERC, TERT, TINF2, TMEM127, TP53, TSC1, TSC2, VHL,
WRN, WT1, XPA, XPC, XRCC2
BRCA1, BRCA2, APC, ATM, BAP1, BARD1, BMPR1A, BRIP1, CDH1, CDKN2A CDK4,
CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MITF, MUTYH, NBN, PALB2, PMS2,
POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53
BRCA1, BRCA2, CHEK2, BRIP1, BARD1, CDH1, TP53, PTEN, RAD51C, MRE11A, NBN,
ATM
APC, MUTYH, MLH1, MSH2, MSH6, PMS1, PMS2, EPCAM, BMPR1A, SMAD4, STK11,
PTEN
APC, ATM, AXIN2, BLM, BMPR1A, BRCA1, BRCA2, BUB1B, CDH1, CDKN2A, EPCAM,
FANCC, GREM1, HNF1A, KIT, MEN1, MLH1, MSH2, MSH6, MUTYH, NF1, PALB2,
PMS2, POLD1, POLE, PTEN, RHBDF2, SDHB, SDHC, SDHD, SMAD4, SMARCB1, STK11,
TMEM127, TP53, TSC1, TSC2, VHL
ATM, BLM, BRCA2, CDKN2A, CEBPA, DKC1, ELANE, FANCA, GATA2, HRAS, KRAS,
MLH1, MSH2, MSH6, NBN, NF1, NRAS, PMS2, PTPN11, RUNX1, SBDS, TERC, TERT,
TINF2, TP53
BRCA2, CDKN2A, EGFR, TP53
BAP1, BRCA1, BRCA2, CDK4, CDKN2A, DDB2, ERCC2, ERCC3, ERCC4, ERCC5, MITF,
PTCH1, PTEN, RB1, SUFU, TP53, WRN, XPA, XPC
APC, ATM, BMPR1A, BRCA1, BRCA2, BUB1B, CDKN2A, EPCAM, FANCC, MEN1,
MLH1, MSH2, MSH6, NF1, PALB2, PMS2, SMAD4, STK11, TP53, TSC1, TSC2, VHL
FH, MAX, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
ALK, APC, AXIN2, BAP1, BLM, BMPR1A, CDC73, CDKN1C, CEBPA, DICER1, DIS3L2,
EPCAM, EZH2, FH, GATA2, GPC3, HRAS, MAX, MEN1, MLH1, MSH2, MSH6, NBN, NF1,
NF2, NSD1, PHOX2B, PMS2, PRF1, PRKAR1A, PTCH1, PTEN, RB1, RECQL4, RET,
RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCB1, STK11, SUFU,
TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1
BAP1, CDC73, CDKN1C, DICER1, DIS3L2, EPCAM, FH, FLCN, GPC3, HNF1A, MET,
MLH1, MSH2, MSH6, PMS2, PTEN, SDHB, SDHC, SDHD, SMARCB1, TP53, TSC1, TSC2,
VHL, WT1
BAP1, FH, FLCN, MET, MITF, MLH1, MSH2, MSH6, PMS2, PTEN, SDHA, SDHB, SDHC,
SDHD, TP53, TSC1, TSC2, VHL, EPCAM (Deletion/Duplication Testing only)
APC, CDC73, DICER1, MEN1, PRKAR1A, PTEN, RET, SDHB, SDHD, TP53, WRN
TSC1, TSC2
DDB2, ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC
DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
A2ML1, AARS2, ABCB4, ABCC9, ACAD9, ACADVL, ACTA1, ACTA2, ACTC1, ACTN2,
AGK, AGL, AKAP9, ALPK3, ANK2, ANKRD1, ANO5, APOA1, APOB, BAG3, BRAF,
CACNA1C, CACNA2D4, CACNB2, CALM1, CALM2, CALM3, CAPN3, CASQ2, CAV3,
CBL, CHKB, COX15, CPT1A, CPT2, CRYAB, CSRP3, CTNNA3, DAG1, DBH, DES, DMD,
DNAJC19, DSC2, DSG2, DSP, DYSF, EMD, ENPP1, ETFA, ETFB, ETFDH, EYA4, FBXO32,
FHL1, FKRP, FKTN, FLNC, FOXRED1, FXN, GAA, GATA5, GATAD1, GBE1, GFM1,
GJA5, GLA, GLB1, GMPPB, GNE, GUSB, HCN4, HFE, HRAS, ISPD, JPH2, JUP, KCNA5,
KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNQ1, KRAS, LAMA2,
LAMP2, LARGE, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MTO1, MYBPC3, MYH6,
MYH7, MYL2, MYL3, MYOT, MYPN, NEXN, NF1, NKX2-5, NOS1AP, NRAS, NSUN2,
PKP2, PLEC, PLEKHM2, PLN, PNPLA2, POMGNT1, POMT1, POMT2, PRDM16, PRKAG2,
PTPN11, RAF1, RASA2, RBM20, RIT1, RRAS, RYR2, SCN10A, SCN1B, SCN3B, SCN5A,
SCNN1B, SCNN1G, SCO2, SDHA, SELENON, SGCA, SGCB, SGCD, SGCG, SHOC2,
SLC22A5, SLC25A20, SLC25A4, SMCHD1, SOS1, SPRED1, TAZ, TBX5, TCAP, TGFB3,
TMEM43, TMEM70, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRIM32, TRPM4, TSFM,
TTN, TTR, VCL, VCP, XK
ABCC6, ACTA2, ADAMTS2, CBS, COL11A1, COL18A1, COL1A1, COL1A2, COL2A1,

COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, EFEMP2, ELN, ENPP1, FBLN5, FBN1,
FBN2, FKBP14, FLNA, GATA5, MFAP5, MYH11, NOTCH1, PLOD1, SKI, SLC2A10,
SLC39A13, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469
ABCB4, AKAP9, ANK2, CACNA1C, CACNA2D4, CACNB2, CALM1, CALM2, CALM3,

CASQ2, CAV3, CTNNA3, DBH, DES, DSC2, DSG2, DSP, GATA6, GJA5, HCN4, JUP,
KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNQ1, LDB3,
LMNA, MYH6, NKX2-5, NOS1AP, PKP2, PLN, RYR2, SCN10A, SCN1B, SCN3B, SCN5A,
TBX5, TGFB3, TMEM43, TNNI3, TNNT2, TRDN, TRPM4, TTN
CTNNA3, DES, DSC2, DSG2, DSP, JUP, LDB3, LMNA, PKP2, PLN, RYR2, TGFB3,
TMEM43, TTN
ABCB4, CACNA2D4, CACNB2, GATA6, GJA5, HCN4, KCNA5, KCND3, KCNE1, KCNE2,
KCNH2, KCNJ2, KCNJ5, KCNQ1, LDB3, LMNA, RYR2, SCN10A, SCN1B, SCN3B, SCN5A,
TBX5
CACNA1C, CACNB2, CAV3, HCN4, KCND3, KCNE3, KCNH2, SCN1B, SCN3B, SCN5A,
TRPM4
A2ML1, AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL,
ALPK3, ANKRD1, ANO5, APOA1, BAG3, BRAF, CAPN3, CASQ2, CAV3, CBL, CHKB,
COX15, CPT1A, CPT2, CRYAB, CSRP3, CTNNA3, DAG1, DBH, DES, DMD, DNAJC19,
DSC2, DSG2, DSP, DYSF, EMD, ETFA, ETFB, ETFDH, EYA4, FBXO32, FHL1, FKRP,
FKTN, FLNC, FOXRED1, FXN, GAA, GATAD1, GBE1, GFM1, GLA, GLB1, GMPPB, GNE,
GUSB, HCN4, HFE, HRAS, ISPD, JPH2, JUP, KRAS, LAMA2, LAMP2, LARGE, LDB3,
LMNA, LZTR1, MAP2K1, MAP2K2, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3,
MYOT, MYPN, NEXN, NF1, NRAS, NSUN2, PKP2, PLEC, PLEKHM2, PLN, PNPLA2,
POMGNT1, POMT1, POMT2, PRDM16, PRKAG2, PTPN11, RAF1, RASA2, RBM20, RIT1,
RRAS, RYR2, SCN5A, SCNN1B, SCNN1G, SCO2, SDHA, SELENON, SGCA, SGCB, SGCD,
SGCG, SHOC2, SLC22A5, SLC25A20, SLC25A4, SMCHD1, SOS1, SPRED1, TAZ, TCAP,
TGFB3, TMEM43, TMEM70, TNNC1, TNNI3, TNNT2, TPM1, TRIM32, TSFM, TTN, TTR,
VCL, VCP, XK
CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TRDN
ACTA2, ACTC1, BMPR2, CHD7, CTC1, ELN, FLNA, FOXC1, FOXH1, G6PC3, GATA4,
GATA5, GATA6, GJA1, GJA5, HRAS, JAG1, NF1, NKX2-5, NODAL, NOTCH1, NOTCH2,
TBX1, TBX5, TFAP2B, TLL1, ZFPM2, ZIC3
ACTC1, BMPR2, CFC1, ELN, G6PC3, GATA4, GATA6, GDF1, GJA1, JAG1, MYH6, NKX2-
3, NKX2-5, NKX2-6, RBM10, TBX1, TBX20, TLL1
ACTA2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL11A1, COL11A2,
FBN1, FBN2, FLNA, MYH11, MYLK, NOTCH1, NTM, PRKG1, SMAD3, TGFB2, TGFBR1,
TGFBR2, TGFBR3
ABCC9, BAG3, DES, DMD, DSC2, DSG2, DSP, EMD, FBXO32, HCN4, JUP, LAMP2,
LMNA, MYBPC3, MYH6, MYH7, PKP2, PLEKHM2, PLN, RAF1, RBM20, SCN5A, TCAP,
TNNT2, TPM1, TTN, VCL
ABCC6, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, CBS, CHST14, COL11A1,
COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2,
EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, PLOD1, PYCR1, SLC39A13,
SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB, ZNF469
B3GALT6, XYLT1, B3GAT3, B4GALT7, PLOD1, FKBP14, SLC39A13, CHST14, DSE,

ADAMTS2, RIN2
ABCA1, ABCG5, ABCG8, APOA1, APOB, APOC3, APOE, LDLR, LDLRAP1, LPL, PCSK9
ABCC9, BAG3, DES, DMD, DSC2, DSG2, DSP, EMD, FBXO32, HCN4, JPH2, JUP, LAMP2,
LMNA, MYBPC3, MYH6, MYH7, PKP2, PLEKHM2, PLN, RAF1, RBM20, RYR2, SCN5A,
TCAP, TNNT2, TPM1, TTN, VCL
SCNN1B, SCNN1G
AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2,
KCNJ2, KCNJ5, KCNQ1, NOS1AP, SCN5A
A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, NSUN2,
PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SPRED1
ACVRL1, BMPR2, CAV1, EIF2AK4, ENG, FOXF1, KCNA5, KCNK3, RASA1, SMAD4,
TBX4
CACNA1C, CACNB2, KCNH2, KCNJ2, KCNQ1
ABCA1, ABCC6, ABCC9, ACTA2, ACTC1, ACTN2, ADRB1, ADRB2, ADRB3, AGL,
AKAP9, ANK2, ANKRD1, APOA1, APOB, APOE, BAG3, BRAF, CACNA1B, CACNA1C,
CACNA1D, CACNA2D1, CACNB2, CALR3, CASQ2, CAV3, CBL, COL3A1, CRYAB,
CSRP3, CTF1, DES, DMD, DPP6, DSC2, DSG2, DSP, DTNA, EFEMP2, EMD, ENPP1,
EYA4, FBLN5, FBN1, FBN2, FHL1, FHL2, FKTN, FLNC, FXN, GAA, GJA1, GJA5, GLA,
GPD1L, HCN1, HCN4, HRAS, ILK, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE1L,
KCNE2, KCNE3, KCNE4, KCNH2, KCNJ11, KCNJ12, KCNJ2, KCNJ3, KCNJ5, KCNJ8,
KCNQ1, KCNQ2, KRAS, LAMA4, LAMP2,LDB3, LDLR, LMNA, LPL, LRP6, MAP2K1,
MAP2K2, MEF2A, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2,
MYOT, MYOZ2, MYPN, NEBL, NEXN, NOTCH1, NPPA, NRAS, PCSK9, PDLIM3, PKP2,
PKP4, PLEC, PLN, PNN,PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RANGRF, RBM20,
RPSA, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN10A, SCNN1B, SCNN1G,
SDHA, SGCD, SHOC2, SLC25A4,SLC2A10, SMAD3, SNTA1, SOS1, SPRED1,
SYNE1,SYNE2, TAZ, TCAP, TGFB3, TGFBR1, TGFBR2, TGFBR3, TMEM43, TMPO,
TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, VCL
ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ
AP3B1, BLOC1S3, BLOC1S6, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST,
MC1R, MITF, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1
ALDH18A1, ATP4A, ATP6V0A2, EFEMP2, ELN, FBLN5, PYCR1, SLC2A10
ELN, FBLN4 (EFEMP2), FBLN5, LTBP4, ATP6V0A2, PYCR1, ALDH18A1, ATP7A, COG7,
TALDO1, SCYL1BP1 (GORAB), NAA10, RIN2
AK2, CTC1, DKC1, NHP2, NOP10, RTEL1, TERC, TERT, TINF2, USB1, WRAP53
ABCC9, BCS1L, DSP, EDA, EDAR, ERCC2, EVC, EVC2, GJB2, GJB6, IFT122, IKBKG,
JUP, PORCN, RMRP, SHOC2, TP63, WDR35, WNT10A
ABCC6, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, CBS, CHST14, COL11A1,
EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, PLOD1, PYCR1, SLC39A13,
SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB, ZNF469
ATP2C1, CDSN, COL17A1, COL7A1, DSG1, DSG2, DSG4, DSP, DST, EXPH5, FERMT1,
GRIP1, ITGA3, ITGA6, ITGB4, KRT1, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1,
PKP1, PLEC, TGM5
CD151, CDSN, CHST8, COL7A1, COL17A1, DSP, DST, EXPH5 , FERMT1, ITGA3, ITGA6,
ITGB4 , JUP , KRT5, KRT14, LAMA3, LAMB3, LAMC2, PKP1, PLEC1, TGM5
ABCA3, AP3B1, BLOC1S3, BLOC1S6, DKC1, DTNBP1, GPR143, HPS1, HPS3, HPS4,
HPS5, HPS6, LYST, OCA2, SFTPB, SFTPC, SLC45A2, TERC, TERT, TINF2, TYR, TYRP1
ABCA12, ALG8, ALOX12B, ALOXE3, CYP4F22, EBP, ERCC2, FLG, GJA1, GJB2, GJB3,
KRT1, KRT2, KRT9, PEX7, PHYH, STS, SUMF1, TGM1
AAGAB, GJB6, KRT16, KRT17, KRT6A, KRT6B, KRT6C, TRPV3
AGPAT2, ALDH18A1, B4GALT7, BLM, BSCL2, COL3A1, ERCC2, ERCC4, ERCC5,

ERCC6, ERCC8, LMNA, PYCR1, RECQL4, WRN, ZMPSTE24
EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10
ABHD12, ACTG1, ADCY1, ADGRV1, ALMS1, ANKH, ATP6V1B1, BCS1L, BDP1, BSND,
BTD, CABP2, CACNA1D, CCDC50, CD151, CDH23, CDKN1C, CEACAM16, CHD7,
CHSY1, CIB2, CLDN14, CLIC5, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3,
COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRYM, DCDC2, DFNA5,
DFNB31, DFNB59, DIABLO, DIAPH1, DIAPH3, DLX5, DSPP, EDN3, EDNRB, ELMOD3,
EPS8, ESPN, ESRRB, EYA1, EYA4, FAM65B, FGF3, FGFR3, FOXI1, GATA3, GIPC3,
GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, GRXCR2, HARS, HGF, HOMER2, HOXB1,
HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, LHFPL5, LOXHD1, LRP2,
LRTOMT, MANBA, MARVELD2, MET, MIR96, MITF, MSRB3, MYH14, MYH9, MYO15A,
MYO1A, MYO3A, MYO6, MYO7A, NARS2, NDP, NLRP3, OSBPL2, OTOA, OTOF, OTOG,
OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3,
PRPS1, PTPRQ, RDX, RMND1, RPS6KA3, SALL4, SEMA3E, SERPINB6, SIX1, SIX5,
SLC17A8, SLC19A2, SLC26A4, SLC26A5, SLC29A3, SLC33A1, SLITRK6, SMAD4, SMPX,
SNAI2, SOX10, STRC, SUCLA2, SUCLG1, SYNE4, TBC1D24, TCOF1, TECTA, TFAP2A,
TIMM8A, TJP2, TMC1, TMC2, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP,
TRMU, TSPEAR, TYR, USH1C, USH1G, USH2A, VCAN, WFS1
CD151, COL4A3, COL4A4, COL4A5, COL4A6, MYH9
EYA1, SIX1, SIX5, TFAP2A
ACVRL1, ENG, RASA1, SMAD4
ACTG1, ADCY1, BDP1, BSND, CABP2, CCDC50, CDH23, CEACAM16, CIB2, CLDN14,
CLIC5, COCH, COL11A2, COL4A6, CRYM, DCDC2, DFNA5, DFNB31, DFNB59, DIABLO,
DIAPH1, DIAPH3, DSPP, ELMOD3, EPS8, ESPN, ESRRB, EYA4, FAM65B, GIPC3, GJB2,
GJB3, GJB6, GPSM2, GRHL2, GRXCR1, GRXCR2, HGF, HOMER2, ILDR1, KARS,
KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MET, MIR96, MSRB3, MYH14,
MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, NARS2, OSBPL2, OTOA, OTOF,
OTOG, OTOGL, P2RX2, PCDH15, PNPT1, POU3F4, POU4F3, PRPS1, PTPRQ, RDX,
SERPINB6, SIX1, SLC17A8, SLC26A4, SLC26A5, SLITRK6, SMPX, STRC, SYNE4,
TBC1D24, TECTA, TJP2, TMC1, TMC2, TMEM132E, TMIE, TMPRSS3, TNC, TPRN,
TRIOBP, TSPEAR, USH1C, WFS1
FOXI1, KCNJ10, SLC26A4
ABHD12, ACTG1, ADGRV1, ALMS1, ANKH, ATP6V1B1, BCS1L, BSND, BTD,

CACNA1D, CD151, CDH23, CDKN1C, CHD7, CHSY1, CIB2, CLRN1, COL11A1,
DFNB31, DLX5, EDN3, EDNRB, EYA1, FGF3, FOXI1, GATA3, HARS, HOXB1, KCNE1,
KCNJ10, KCNQ1, LRP2, MANBA, MITF, MYH9, MYO7A, NDP, NLRP3, PAX3, PCDH15,
PDZD7, POLR1C, POLR1D, SEMA3E, SIX1, SIX5, SLC19A2, SLC26A4, SLITRK6, SMAD4,
SNAI2, SOX10, TCOF1, TFAP2A, TIMM8A, TYR, USH1C, USH1G, USH2A, VCAN, WFS1
ABHD12, ADGRV1, CDH23, CIB2, CLRN1, DFNB31, HARS, MYO7A, PCDH15, PDZD7,
USH1C, USH1G, USH2A
EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10

AMH, AMHR2, ANOS1, AR, ARX, ATRX, BCOR, CDKN1C, CEP41, CHD7, CREBBP,
CYP11B1, CYP17A1, CYP19A1, CYP21A2, DHCR7, DYNC2H1, FIG4, FRAS1, GATA4,
GNRHR, HSD17B3, HSD3B2, IL17RD, IRF6, LHCGR, MKS1, NR0B1, NR5A1, POR,
PROKR2, RSPO1, SOX9, SRD5A2, SRY, STAR, TACR3, WT1, ZFPM2
CYP11B1, CYP17A1, CYP21A2, HSD3B2, POR, PRKAR1A, STAR
MC2R, MRAP, NNT, NR3C1, POMC, STAR
AIRE, CASR, CDC73, CDKN1B, MEN1, RET
ABCC8, ACAT1, FBP1, GCK, GLUD1, HADH, HMGCL, HMGCS2, HNF1A, HNF4A, INSR,
KCNJ11, OXCT1, PCK1, PCK2, PDX1, SLC16A1, UCP2
CLDN16, CLDN19, CNNM1, CNNM2, CNNM4, EGF, FXYD2, HNF1B, KCNA1, MAGT1,
MMGT1, NIPA2, SLC12A3, SLC41A2, SLC41A3, TRPM6, TRPM7
DUOX2, GNAS, HESX1, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SLC16A2, SLC26A4,
SLC5A5, TG, THRA, THRB, TPO, TSHB, TSHR
ANOS1, CHD7, FGF8, FGFR1, GNRHR, PROK2, PROKR2, TACR3
ABCC8, BLK, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4,
PDX1
ABCC8, BLK, EIF2AK3, FOXP3, G6PC2, GCK, GLIS3, GLUD1, HADH, HNF1A, HNF1B,
HNF4A, INS, INSR, KCNJ11, KLF11, NEUROD1, NEUROG3, PAX4, PDX1, PPARG,
SLC16A1, SLC2A2, UCP2, WFS1
ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP290, CRTC1,
CUL4B, DYRK1B, GNAS, LEP, LEPR, MAGEL2, MC3R, MC4R, MKKS, MKS1, NR0B2,
NTRK2, PCSK1, PHF6, POMC, PPARG, PYY, SDCCAG8, SIM1, TRIM32, TTC8, UCP3,
VPS13B, WDPCP
CYP17A1, CYP19A1, FOXL2, FSHR, GALT, GNAS, LHCGR, LMNA, NR5A1, POLG, POR,
STAR, WT1
NOBOX, LHR, STAR, BMP15, PSMC3IP, WT1, DIAPH2, FSHB, GDF9, FOXL2, WNT4,
FSHR, FIGLA, CYP17A1, CYP19A1, POF1B
ABCB11, ABCB4, ABCC2, ATP8B1, CFTR, CYP7B1, DGUOK, EPCAM, FAH, JAG1, LCT,
MKS1, MYO5B, NEUROG3, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, SERPINA1,
SLC25A13, SLC26A3, SMPD1, SPINT2, TJP2, TMEM216, TRMU, TTC37, UGT1A1,
VPS33B
ABCB11, ABCB4, AKR1D1, ATP8B1, BAAT, CLDN1, HSD3B7, JAG1, NOTCH2, NR1H4,
SERPINA1, SLC25A13, TJP2, VIPAS39, VPS33B
DGAT1, EPCAM, GUCY2C, LCT, MYO5B, NEUROG3, SLC26A3, SPINT2, TTC37
AHI1, ARL13B, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CC2D2A,
CEP290, INVS, IQCB1, MKKS, MKS1, NPHP1, NPHP3, NPHP4, OFD1, PKD2, PKHD1,
RPGRIP1L, TMEM67, TRIM32, TTC21B, TTC8, WDR35
CHD7, FANCB, FANCC, GLI3, MID1, SOX2, TTC7A
EDN3, EDNRB, KIF1BP, MITF, NRG1, PAX3, RET, SOX10, ZEB2
CFTR, CPA1, CTRC, PRSS1, SPINK1

LRP5, PKD1, PKD2, PRKCSH, SEC63
ABCA3, ABCB7, ABCG5, ABCG8, ACTB, ACTN1, ADAMTS13, AK2, ALAS2, AMN,
ANK1, ANKRD26, AP3B1, ATM, ATR, ATRX, BLM, BLOC1S3, BLOC1S6, BRCA2, BRIP1,
C15ORF41, CDAN1, CDKN2A, CEBPA, CSF2RA, CTC1, CTSC, CUBN, CXCR4, CYCS,
DKC1, DTNBP1, ELANE, EPB42, ERCC4, F10, F11, F12, F13A1, F2, F5, F7, F8, F9,
FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM,
FAS, FGA, FGB, FGG, FLNA, G6PC3, G6PD, GATA1, GATA2, GGCX, GP1BA, GP1BB,
GP9, GPI, GPR143, GSS, HAX1, HBA1, HBA2, HBB, HFE, HOXA11, HPS1, HPS3, HPS4,
HPS5, HPS6, HRAS, IFNGR2, ITGA2, ITGA2B, ITGB3, ITK, JAGN1, KLF1, KRAS,
LMAN1, LPIN2, LYST, MAGT1, MASTL, MLH1, MPL, MSH2, MSH6, MTR, MYH9,
MYO5A, NBEAL2, NBN, NF1, NHP2, NOP10, NRAS, OCA2, P2RY12, PALB2, PC, PDHA1,
PDHX, PKLR, PMS2, PRF1, PROC, PROS1, PTPN11, PUS1, RAB27A, RAD51C, RBM8A,
RECQL4, RPL11, RPL15, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS29,
RPS7, RTEL1, RUNX1, SBDS, SEC23B, SERPINC1, SFTPB, SFTPC, SH2D1A, SLC19A2,
SLC45A2, SLC4A1, SLFN14, SLX4, SPTA1, SPTB, STX11, STXBP2, TBXA2R, TCIRG1,
TERC, TERT, THBD, TINF2, TMPRSS6, TP53, TPI1, TUBB1, TYR, TYRP1, UNC13D,
USB1, VKORC1, VWF, WAS, WRAP53, XIAP, XRCC2, YARS2
ABCB7, ADAMTS13, ALAS2, AMN, ANK1, ATM, ATR, ATRX, BLM, BRCA2, BRIP1,
C15ORF41, CDAN1, CUBN, EPB42, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE,
FANCF, FANCG, FANCI, FANCL, FANCM, G6PD, GATA1, GPI, GSS, HBA1, HBA2, HBB,
HFE, KLF1, LPIN2, MTR, NBN, PALB2, PC, PDHA1, PDHX, PKLR, PUS1, RAD51C,
RPL11, RPL15, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS29, RPS7, SBDS,
SEC23B, SLC19A2, SLC4A1, SLX4, SPTA1, SPTB, THBD, TMPRSS6, TPI1, XRCC2,
YARS2
ABCG5, ABCG8, ACTN1, ADAMTS13, ANKRD26, AP3B1, BLOC1S3, BLOC1S6, CYCS,

DTNBP1, F10, F11, F12, F13A1, F2, F5, F7, F8, F9, FGA, FGB, FGG, FLNA, GATA1, GGCX,
GP1BA, GP1BB, GP9, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3,
LMAN1, MASTL, MPL, MYH9, NBEAL2, P2RY12, PROC, PROS1, RBM8A, RUNX1,
SERPINC1, SLFN14, TBXA2R, THBD, TUBB1, VKORC1, VWF, WAS
BLM
ACTB, AK2, AP3B1, ATM, ATR, BLM, BLOC1S3, BLOC1S6, BRCA2, BRIP1, CDKN2A,
CEBPA, CSF2RA, CTC1, CTSC, CXCR4, DKC1, DTNBP1, ELANE, ERCC4, FANCA,
FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS,
G6PC3, GATA1, GATA2, HAX1, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, IFNGR2, ITK,
JAGN1, KRAS, LYST, MAGT1, MLH1, MPL, MSH2, MSH6, MYO5A, NBN, NF1, NHP2,
NOP10, NRAS, PALB2, PMS2, PRF1, PTPN11, RAB27A, RAD51C, RECQL4, RPL11,
RPL15, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS29, RPS7, RTEL1,
RUNX1, SBDS, SH2D1A, SLX4, STX11, STXBP2, TCIRG1, TERC, TERT, TINF2, TP53,
UNC13D, USB1, WAS, WRAP53, XIAP, XRCC2
F10, F11, F12, F13A1, F2, F5, F7, F8, F9, FGA, FGB, FGG, GGCX, LMAN1, VKORC1, VWF
ACTB, CSF2RA, CTSC, ELANE, G6PC3, GATA2, HAX1, IFNGR2, JAGN1, LYST, SBDS,
TCIRG1, WAS
GATA1, RPL11, RPL15, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS29,
RPS7
ATM, ATR, BLM, BRCA2, BRIP1, CXCR4, ERCC4, FANCA, FANCB, FANCC, FANCD2,
FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, NBN, PALB2, RAD51C, SLX4,
XRCC2
FAS, ITK, LYST, MAGT1, MYO5A, PRF1, RAB27A, RECQL4, SH2D1A, STX11, STXBP2,
UNC13D, XIAP
ATM, BLM, BRCA2, CDKN2A, CEBPA, DKC1, ELANE, FANCA, GATA2, HRAS, KRAS,
MLH1, MSH2, MSH6, NBN, NF1, NRAS, PMS2, PTPN11, RUNX1, SBDS, TERC, TERT,
TINF2, TP53
CSF3R, ELANE, G6PC3, GATA2, GFI1, HAX1, VPS45, WAS
AP3B1, BLOC1S3, BLOC1S6, DTNBP1, GP1BA, GP1BB, GP9, HPS1, HPS3, HPS4, HPS5,
HPS6, ITGA2B, ITGB3, NBEAL2, P2RY12, RUNX1, TBXA2R
ANK1, EPB42, SLC4A1, SPTA1, SPTB
ABCG5, ABCG8, ACTN1, ADAMTS13, ANKRD26, CYCS, FLNA, GATA1, GP1BA,

GP1BB, GP9, HOXA11, ITGA2, ITGA2B, ITGB3, MASTL, MPL, MYH9, NBEAL2, RBM8A,
RUNX1, SLFN14, THBD, TUBB1, WAS
ACP5, ACTB, ADA, ADAR, ADIPOQ, ADIPOR1, ADIPOR2, AICDA, AIRE, AK2, AP3B1,
ARMC4, ATM, BLM, BTK, C1QA, C1QB, C1QBP, C1QC, C1R, C1S, C2, C3, C3AR1, C4A,
C4B, C4BPA, C4BPB, C5, C5AR1, C5AR2, C6, C7, C8A, C8B, C8G, C9, CARD11, CARD14,
CASP10, CASP8, CCDC103, CCDC114, CCDC39, CCDC40, CCDC65, CCNO, CD19, CD247,
CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD8A, CD93, CECR1,
CFB, CFD, CFH, CFHR1, CFHR3, CFI, CFP, CIITA, CLU, COLEC11, CORO1A, CR1, CR2,
CRP, CSF2RA, CTC1, CTLA4, CTSC, CYBA, CYBB, DCLRE1C, DDX58, DGKE, DKC1,
DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1,
DNMT3B, DOCK2, DOCK8, DRC1, DYX1C1, ELANE, FAS, FCN1, FCN2, FCN3, FERMT3,
FOXP3, G6PC3, G6PD, GATA2, HAX1, HYDIN, IFIH1, IFNGR1, IFNGR2, IGHM, IGLL1,
IKBKG, IL10RA, IL10RB, IL12RB1, IL1RN, IL2RA, IL2RG, IL36RN, IL7, IL7R, ISG15,
ITGB2, ITK, JAGN1, JAK3, LCK, LIG4, LPIN2, LRBA, LRRC6, LYST, MAGT1, MALT1,
MASP1, MASP2, MAT2A, MEFV, MRE11A, MVK, NBN, NCF1, NCF2, NCF4, NFKB1,
NFKB2, NFKBIA, NHEJ1, NHP2, NLRP12, NLRP3, NME8, NOD2, NOP10, NRAS, OFD1,
ORAI1, PIGA, PIK3CD, PIK3R1, PLCG2, PMS2, PNP, PRF1, PRKDC, PSMB8, PSTPIP1,
PTPRC, PTX3, RAB27A, RAG1, RAG2, RFX5, RFXANK, RFXAP, RHOH, RMRP,
RNASEH2A, RNASEH2B, RNASEH2C, RPGR, RSPH1, RSPH4A, RSPH9, RTEL1,
SAMHD1, SBDS, SERPING1, SH2D1A, SLC37A4, SMARCAL1, SP110, SPAG1, SPINK5,
STAT1, STAT2, STAT3, STAT4, STAT5B, STIM1, STK4, STXBP2, TAP1, TAP2, TAPBP,
TBX1, TCIRG1, TERC, TERT, THBD, TINF2, TMEM173, TNFRSF13B, TNFRSF1A,
TNFRSF4, TRAC, TREX1, TYK2, UNC119, USB1, VSIG4, VTN, WAS, WRAP53, XIAP,
ACP5, ADAR, CARD14, DDX58, ELANE, IFIH1, IL1RN, IL36RN, ISG15, LPIN2, MEFV,
MVK, NLRP12, NLRP3, NOD2, PLCG2, PSMB8, PSTPIP1, RNASEH2A, RNASEH2B,
RNASEH2C, SAMHD1, TMEM173, TNFRSF1A, TREX1
ACTB, AK2, AP3B1, ATM, ATR, BLM, BLOC1S3, BLOC1S6, BRCA2, BRIP1, CDKN2A,
CEBPA, CSF2RA, CTC1, CTSC, CXCR4, DKC1, DTNBP1, ELANE, ERCC4, FANCA,
FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS,
G6PC3, GATA1, GATA2, HAX1, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, IFNGR2, ITK,
JAGN1, KRAS, LYST, MAGT1, MLH1, MPL, MSH2, MSH6, MYO5A, NBN, NF1, NHP2,
NOP10, NRAS, PALB2, PMS2, PRF1, PTPN11, RAB27A, RAD51C, RECQL4, RPL11,
RPL15, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS29, RPS7, RTEL1,
RUNX1, SBDS, SH2D1A, SLX4, STX11, STXBP2, TCIRG1, TERC, TERT, TINF2, TP53,
UNC13D, USB1, WAS, WRAP53, XIAP, XRCC2
CYBA, CYBB, G6PD, NCF1, NCF2, NCF4, NOD2

ADIPOQ, ADIPOR1, ADIPOR2, ARMC4, C1QA, C1QB, C1QBP, C1QC, C1R, C1S, C2, C3,
C3AR1, C4A, C4B, C4BPA, C4BPB, C5, C5AR1, C5AR2, C6, C7, C8A, C8B, C8G, C9,
CCDC103, CCDC114, CCDC39, CCDC40, CCDC65, CCNO, CD46, CD55, CD59, CD93,
CFB, CFD, CFH, CFHR1, CFHR3, CFI, CFP, CLU, COLEC11, CR1, CR2, CRP, DGKE,
DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1,
DRC1, DYX1C1, FCN1, FCN2, FCN3, HYDIN, LRRC6, MASP1, MASP2, MAT2A, NME8,
OFD1, PIGA, PTX3, RPGR, RSPH1, RSPH4A, RSPH9, SERPING1, SPAG1, THBD, VSIG4,
VTN, ZMYND10
ACTB, CSF2RA, CTSC, ELANE, G6PC3, GATA2, HAX1, IFNGR2, JAGN1, LYST, SBDS,
TCIRG1, WAS
ADA, AK2, ATM, BLM, CARD11, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG,
CD8A, CIITA, CORO1A, DCLRE1C, DNMT3B, DOCK8, IFNGR1, IKBKG, IL12RB1,
IL2RA, IL2RG, IL7R, ITGB2, ITK, JAK3, LCK, LIG4, LRBA, MAGT1, MALT1, NHEJ1,
ORAI1, PIK3CD, PMS2, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RFXAP,
RHOH, RMRP, RTEL1, SH2D1A, SMARCAL1, SP110, SPINK5, STAT1, STAT2, STAT3,
STAT4, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TBX1, TNFRSF4, TRAC, TYK2,
UNC119, WAS, ZAP70
ABCC6, ACP5, ACTA1, ACTB, ACTG1, ACVR1, ADAMTS10, ADAMTS2, ADAMTSL2,

ADGRG1, AGPS, AGRN, AKT1, AKT3, ALPL, ALX3, ALX4, AMER1, ANKH, ANO5,
ARFGEF2, ARHGAP31, ARID1A, ARID1B, ARSE, ARX, ASPA, ASPM, ASXL1,
ATP6V0A2, ATR, B3GALNT2, B3GALT6, B4GALT7, BHLHA9, BIN1, BMP1, BMP2,
BMP4, BMPR1A, BMPR1B, BRWD3, CA2, CANT1, CAPN3, CASK, CASR, CBS, CCM2,
CCND2, CDC6, CDK5RAP2, CDKN1C, CDON, CDT1, CENPF, CENPJ, CEP152, CEP164,
CEP63, CFL2, CHAT, CHD7, CHD8, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE,
CHRNG, CHST14, CHST3, CLCN5, CLCN7, COL10A1, COL11A1, COL11A2, COL1A1,
COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, COLQ, COMP, CREBBP, CRTAP, CSPP1,
CTSK, CUL4B, CUL7, CYP27B1, DCX, DHCR24, DHCR7, DIS3L2, DLL3, DLL4, DLX3,
DNM2, DNMT3A, DOCK6, DOK7, DPAGT1, DVL1, DYM, DYNC1H1, DYNC2H1,
DYRK1A, EBP, ECEL1, EDN3, EDNRB, EFEMP2, EFNB1, EFTUD2, EGR2, EIF2AK3,
EIF2B5, ELN, EMD, EMX2, ENAM, ENPP1, EOGT, EP300, ERCC5, ERCC6, ERCC8,
ESCO2, EVC, EVC2, EXOSC3, EXT1, EXT2, EYA1, EZH2, FAM20A, FAM20C, FAM83H,
FANCB, FANCC, FBLN5, FBN1, FBN2, FGD1, FGF23, FGF3, FGF8, FGFR1, FGFR2,
FGFR3, FH, FHL1, FKBP10, FKBP14, FKRP, FKTN, FLNA, FLNB, FOXH1, FOXL2,
FREM1, GAA, GBA, GBE1, GDF5, GFAP, GFPT1, GH1, GHR, GHRHR, GJA1, GLE1, GLI2,
GLI3, GMPPB, GNAS, GNPAT, GPC3, GPSM2, GRIA3, HDAC8, HEPACAM, HESX1,
HOXA13, HOXD13, HSPG2, HUWE1, IFT122, IFT140, IFT172, IFT80, IGF1, IGF1R,
IGFALS, IHH, IKBKG, INSR, IRF6, IRS1, ISPD, KAT6B, KBTBD13, KDM6A, KIAA0196,
KIF11, KIF1BP, KIF7, KIT, KLHL40, KMT2D, KRAS, KRIT1, L1CAM, LAMA2, LAMP2,
COL11A1, COL11A2, COL2A1, SLC26A2, TRIP11
ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ
ACTA1, AGRN, BIN1, CASK, CFL2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE,
CHRNG, CHST14, COL6A2, COLQ, DHCR24, DOK7, DPAGT1, ECEL1, EGR2, ERCC5,
ERCC6, EXOSC3, FBN2, FHL1, FKTN, GBA, GBE1, GFPT1, GLE1, KAT6B, KLHL40,
MPZ, MTM1, MUSK, MYBPC1, MYH2, MYH3, NALCN, NEB, PIEZO2, PLOD2, PMM2,
RAPSN, RARS2, SCO2, SELENON, TGFB3, TK2, TNNI2, TNNT1, TPM2, TPM3, TRPV4,
TSEN2, TSEN54, VPS33B, VRK1, ZBTB42
BMPR1B, ESCO2, GDF5, GNAS, HOXA13, HOXD13, IHH, NOG, RECQL4, ROR2, SOX9,
TP63
PLOD2, FKBP10
CCM2, KRIT1, PDCD10, RASA1

AGPS, ARSE, EBP, GNPAT, LBR, NSDHL, PEX7
ERCC6, ERCC8
ALPL, ALX3, ALX4, BMP4, EDN3, EDNRB, EFNB1, ESCO2, FGFR1, FGFR2, FGFR3,
FLNB, FREM1, GDF5, GLI3, IFT122, IFT140, MASP1, MITF, MSX2, NOG, PAX3, POR,
RECQL4, RET, SKI, SOX10, TCF12, TGFBR1, TGFBR2, TTR, TWIST1, WDR19, WDR35
DSPP, MSX1, PTH1R, WNT10A
ATR, CDC6, CDT1, CENPJ, CEP152, CEP63, CUL7, NOTCH2, OBSL1, ORC1, ORC4,
ORC6, PCNT, RBBP8, RNU4ATAC
LMBR1, TP63, WNT3, WNT10B
ALPL, ALX3, ALX4, CREBBP, DLL3, EFNB1, EFTUD2, EP300, EVC, EVC2, FGFR1,
FGFR2, FGFR3, GHR, HDAC8, HSPG2, LIFR, NIPBL, POLR1C, RMRP, SF3B4, SMC1A,
SMC3, SOX9, SRCAP, TCF12, TCOF1, TWIST1, UBE2A
CHRNA1, CHRND, CHRNE, CHRNG, COLQ, DOK7, GLE1, KLHL40, MUSK, RAPSN
CHD7, FANCB, FANCC, GLI3, MID1, SOX2, TTC7A
ACVR2B, ANKS6, CCDC103, CCDC11, CCDC114, CCDC39, CCDC40, DNAAF1, DNAAF2,

DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, FOXH1, GDF1, HEATR2, INVS,
LEFTY2, LRRC6, NKX2
EDN3, EDNRB, KIF1BP, MITF, NRG1, PAX3, RET, SOX10, ZEB2
CDON, FGF8, FGFR1, FOXH1, GLI2, GLI3, NODAL, PTCH1, SHH, SIX3, TGIF1, ZIC2
CHD7, EYA1, FLNB, IRF6, KDM6A, KMT2D, SIX5
ACTB, ACTG1, ARX, DCX, FKTN, LARGE, PAFAH1B1, POMGNT1, POMT1, POMT2,
RELN, TUBA1A, TUBB2B, VLDLR, YWHAE
ABCC6, AKT1, AKT3, ASPA, BRWD3, CCND2, CDKN1C, CHD8, CUL4B, DHCR24,
DIS3L2, DNMT3A, EIF2B5, EZH2, GFAP, GLI3, GPC3, GPSM2, GRIA3, HEPACAM,
HUWE1, KIAA0196, KIF7, L1CAM, MED12, MLC1, NFIX, NSD1, OFD1, PIGA, PIK3CA,
PTCH1, PTEN, RAB39B, SYN1, TSC1, TSC2, UPF3B
CDC6, CDT1, ORC1, ORC4, ORC6
ANKH, CDKN1C, COL10A1, FGFR3, FLNA, MMP9, PTH1R, RMRP, RUNX2, SBDS
AKT3, ASPM, ATR, CASK, CDK5RAP2, CENPF, CENPJ, CEP152, CEP164, CEP63,
DYNC1H1, DYRK1A, EFTUD2, EXOSC3, KIF11, LIG4, MBD5, MCPH1, MRE11A, NDE1,
NHEJ1, OPHN1, PAFAH1B1, PCNT, PNKP, POMT1, PQBP1, RARS2, STIL, TSEN2,
TSEN54, TUBB2B, VRK1, WDR62
ADAMTS10, ADAMTSL2, BMPR1B, DVL1, EXT1, FBN1, FGFR3, GDF5, GNAS, IFT122,
IFT140, IHH, LIFR, LTBP2, NPR2, PRKAR1A, ROR2, SHOX, SMAD4, SOX9, TRPS1,
WDR19, WDR35, WNT5A
FGF9, FLNB, GDF5, HOXA11, NOG, TTR

ACTB, ACTG1, ADGRG1, AKT3, ARFGEF2, ARX, B3GALNT2, CHD7, COL4A1, COL4A2,
COL4A4, DCX, DYNC1H1, EMX2, FH, FKTN, FLNA, GMPPB, GPSM2, ISPD, KIF1BP,
KIF7, L1CAM, LAMA2, LARGE, MED12, MEF2C, NDE1, NSDHL, PAFAH1B1, PIK3CA,
POMGNT1, POMT1, POMT2, RAB3GAP1, RAB3GAP2, RELN, SLC12A6, SRPX2, TMEM5,
TUBA1A, TUBA8, TUBB2B, TUBB3, VLDLR, WDR62, YWHAE
ACTA1, ALPL, ANO5, ATP6V0A2, B3GALNT2, B4GALT7, BMP1, CAPN3, CFL2, CHKB,
CLCN5, COL1A1, COL1A2, COL6A1, COL6A2, COL6A3, CRTAP, DNM2, EMD, ENPP1,
FGF23, FHL1, FKBP10, FKRP, FKTN, FLNA, FLNB, GAA, GMPPB, ISPD, KBTBD13,
KLHL40, LAMA2, LAMP2, LARGE, LMNA, LRP5, MYH7, NEB, OCRL, P3H1, PHEX,
PIEZO2, PLOD2, POMGNT1, POMT1, POMT2, PPIB, PYCR1, RAPSN, RYR1, SELENON,
SERPINF1, SERPINH1, SIL1, SLC34A3, TMEM43, TMEM5, TNNT1, TPM2, TPM3
BANF1, MMP2, SQSTM1, TNFRSF11A, TREM2, TYROBP, WNK1
AMER1, ANKH, CA2, CLCN7, COL1A1, CTSK, DLX3, FAM20C, GJA1, IKBKG, LEMD3,
LRP4, LRP5, PTH1R, SLC29A3, SLCO2A1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B,
TYROBP
CA2, CLCN7, OSTM1, PLEKHM1, TCIRG1, TNFRSF11A
ANKH, DLX3, HPGD, LRP4, SOST, TGFB1, TNFRSF11B
LRP5, WNT1, PLS3
LMX1B, PITX1, TBX4
GLI3, HOXD10, HOXD13, LMBR1, LRP4, PITX1
ADGRG1, AKT3, CHD7, FH, GPSM2, KIF1BP, NDE1, NSDHL, SRPX2, TUBA1A, TUBA8,
TUBB2B, TUBB3, WDR62
ABCC6, ENPP1, GGCX, VEGFA (Hotspots)
ACAN, COL2A1, HPGD, IL1RN, LPIN2, TRPV4, WISP3
ATR, CENPJ, CEP152, CEP63, PCNT, RBBP8
HESX1, OTX2, PAX6, SOX2
AMH, AMHR2, AR, ARX, CBX2, CYP11A1, CYP11B1, CYP17A1, CYP19A1, DHCR7,
DHH, DMRT1, HSD11B1, HSD17B3, HSD3B2, INSL3, LHCGR, MAMLD1, NR3C1, NR5A1,
POR, RSPO1, RXFP2, SOX9, SRD5A2, STAR, TSPYL1, WT1, WNT4
CSPP1, DYNC2H1, EVC, EVC2, GLI2, IFT122, IFT140, IFT172, IFT80, NEK1, TCTN3,
TTC21B, WDR19, WDR34, WDR35
AKT1, ATR, BMP2, BMP4, BMPR1A, CDC6, CDT1, CENPJ, CEP152, CEP63, CREBBP,
CUL7, DHCR7, EP300, EYA1, FGD1, FGF3, FGFR3, FOXL2, GH1, GHR, GHRHR, GLI2,
HESX1, IGF1, IGF1R, IGFALS, INSR, IRS1, KRAS, LHX3, LHX4, NIPBL, NOTCH2,
NR5A1, OBSL1, ORC1, ORC4, ORC6, OTX2, PCNT, PITX2, POU1F1, PROP1, PTCH1,
PTPN11, RAF1, RBBP8, RNU4ATAC, SHH, SHOX, SIX3, SMC1A, SOS1, SOX2, SOX3,
STAT5B, TBX19, TBX3, TGIF1, ZIC2
ALPL, ANKH, B4GALT7, CASR, CLCN5, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2,
CRTAP, CYP27B1, ENPP1, FBN1, FGF23, FKBP10, P3H1, PHEX, PLOD2, PPIB, SERPINF1,
SLC34A3, SLC39A13, SOX9, TNFRSF11A, TNFRSF11B, VDR
ACP5, B3GALT6, CANT1, CHST3, COL11A1, COL11A2, COL2A1, DYM, EIF2AK3,
HSPG2, MATN3, PAPSS2, RMRP, SLC39A13, SMARCAL1, TRAPPC2, TRPV4, WISP3
COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, LRP2, VCAN
RAB3GAP1, RAB3GAP2, RAB18
ABCC8, ABCD1, ABCD4, ACAA1, ACAD9, ACADL, ACADM, ACADS, ACADVL,

ACAT1, ACOX1, ACSF3, ACY1, ADAMTSL2, ADAR, ADCK3, ADSL, AGA, AGK, AGL,
AGPAT2, AKT2, ALAD, ALAS2, ALDH5A1, ALDH7A1, ALDOA, ALG1, ALG11, ALG12,
ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMACR, AMT, ANO10, ANTXR2, APTX,
ARG1, ARSA, ARSB, ASAH1, ASL, ASPA, ASS1, ATP13A2, ATP6V0A2, AUH, B3GLCT,
B4GALT1, BCKDHA, BCKDHB, BSCL2, BTD, C10ORF2, C12ORF65, CACNA1S, CAV1,
CAV3, CBS, CD320, CKMT1A, CKMT1B, CKMT2, CLCN1, CLDN16, CLDN19, CLN3,
CLN5, CLN6, CLN8, CNNM1, CNNM2, CNNM4, COG1, COG4, COG5, COG6, COG7,
COG8, COL11A2, COL2A1, COQ2, COQ6, COQ9, CPOX, CPS1, CPT1A, CPT1B, CPT2,
CTNS, CTSA, CTSC, CTSD, CTSK, DBT, DDOST, DGUOK, DHCR7, DHDDS, DLD, DOLK,
DPAGT1, DPM1, DPM2, DPM3, DPYD, DYM, ECHS1, EGF, ENO3, EPM2A, ETFA, ETFB,
ETFDH, FBP1, FBXL4, FECH, FH, FLNA, FLNB, FOLR1, FUCA1, FXYD2, G6PC, GAA,
GALC, GALNS, GAMT, GATM, GBA, GBE1, GCDH, GCH1, GCK, GIF, GLA, GLB1,
GLDC, GLUD1, GMPPA, GNE, GNPAT, GNPTAB, GNPTG, GNS, GPC3, GPHN, GUSB,
GYG1, GYS1, GYS2, HADH, HADHA, HADHB, HAMP, HCFC1, HEXA, HEXB, HFE,
HFE2, HGSNAT, HLCS, HMBS, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HPD,
HRAS, HSD17B10, HSD17B4, HYAL1, IDS, IDUA, IFIH1, INSR, ISCU, IVD, KCNA1,
KCNJ11, KCNJ2, L2HGDH, LAMA2, LAMP2, LDB3, LDHA, LIPA, LMBRD1, LMNA,
LPIN1, MAGT1, MAN1B1, MANBA, MCCC1, MCCC2, MCEE, MCOLN1, MFN2, MFSD8,
MGAT2, MMAA, MMAB, MMACHC, MMADHC, MMGT1, MOCS1, MOCS2, MOGS,
MPDU1, MPI, MPV17, MTHFR, MTR, MTRR, MUT, MYOT, NAGLU, NAGS, NDUFS1,
NEU1, NHLRC1, NIPA2, NPC1, NPC2, OAT, OPA1, OPA3, OTC, OXCT1, PAH, PC,
ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1
ADCK3, ANO10, APTX, COQ2, COQ6, COQ9, ETFA, ETFB, ETFDH, PDSS1, PDSS2
ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B3GLCT,
B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1,
DPM1, DPM2, DPM3, GMPPA, GNE, MAGT1, MAN1B1, MGAT2, MOGS, MPDU1, MPI,
PGM1, PMM2, RFT1, RPN2, SEC23B, SLC35A1, SLC35A2, SLC35C1, SRD5A3, SSR4,
STT3A, STT3B, TMEM165, TUSC3
CKMT1A, CKMT1B, CKMT2, GAMT, GATM, SLC6A8
SLC3A1, SLC7A9
ACAA1, ACAD9, ACADL, ACADM, ACADS, ACADVL, ALDH5A1, CPT1A, CPT2,

ECHS1, ETFA, ETFB, ETFDH, GLUD1, HADH, HADHA, HADHB, HMGCL, HMGCS2,
HSD17B10, LPIN1, PPARG, SLC22A5, SLC25A20, TAZ
AGL, ALDOA, ENO3, EPM2A, FBP1, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2,
LDHA, NHLRC1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2,
PRKAG2, PRKAG3, PYGL, PYGM, RBCK1, SLC2A2, SLC37A4
HAMP, HFE, HFE2, SLC40A1, TFR2
ABCA1, ABCG5, ABCG8, APOA1, APOB, APOC3, APOE, LDLR, LDLRAP1, LPL, PCSK9
ABCG5, ABCG8, APOB, APOC2, APOE, GPIHBP1, LDLR, LDLRAP1, LMF1, LPL, PCSK9
GCH1, PAH, PCBD1, PTS, QDPR
ABCC8, ACAT1, FBP1, GCK, GLUD1, HADH, HMGCL, HMGCS2, HNF1A, HNF4A, INSR,
KCNJ11, OXCT1, PCK1, PCK2, PDX1, SLC16A1, UCP2
AGPAT2, AKT2, BSCL2, CAV1, LMNA, PLIN1, PPARG, PTRF, TBC1D4, ZMPSTE24
ABCC8, ACY1, ADAMTSL2, ADSL, AGA, ALDH5A1, ALDH7A1, AMT, ANTXR2, ARG1,
ARSA, ARSB, ASAH1, ASPA, ATP13A2, BTD, CLN3, CLN5, CLN6, CLN8, COL11A2,
COL2A1, CTNS, CTSA, CTSC, CTSD, CTSK, DHCR7, DPYD, DYM, ETFA, ETFB, ETFDH,
FH, FOLR1, FUCA1, GAA, GALC, GALNS, GAMT, GBA, GCDH, GLA, GLB1, GLDC,
GNE, GNPTAB, GNPTG, GNS, GPC3, GUSB, HEXA, HEXB, HGSNAT, HPD, HRAS,
HYAL1, IDS, IDUA, L2HGDH, LAMA2, LDB3, LIPA, MAN1B1, MANBA, MCOLN1,
MFSD8, MOCS1, MOCS2, MYOT, NAGLU, NEU1, NPC1, NPC2, PEX1, PEX10, PEX12,
PEX13, PEX16, PEX26, PEX3, PEX5, PEX6, PGK1, PHYH, PPT1, PRODH, PSAP, QDPR,
RAI1, SGSH, SLC17A5, SLC25A15, SLC46A1, SMPD1, SUMF1, SUOX, TCF4, TPP1
ACAD9, ACADL, ACADM, ACADVL, AGL, ALDOA, C10ORF2, CAV3, CPT1B, CPT2,
ENO3, ETFA, ETFB, ETFDH, GAA, GBE1, GYG1, GYS1, HADHA, HADHB, ISCU, LDHA,
LPIN1, OPA1, OPA3, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKG1, POLG, PYGM,
RBCK1, RRM2B, RYR1, SLC22A5, SUCLA2, TK2, TYMP
MTRNR1, MTRNR2, MTND1, MTND2, MTND3, MTND4L, MTND4, MTND5, MTND6,

MTCO1, MTCO2, MTCO3, MTATP8, MTATP6, MTCYB, MTTF, MTTV, MTTL1, MTTI,
MTTQ, MTTM, MTTW, MTTA, MTTN, MTTC, MTTY, MTTS1, MTTD, MTTK, MTTG,
MTTR, MTTH, MTTS2, MTTL2, MTTE, MTTT, MTTP
AGK, APTX, AUH, C10ORF2, C12ORF65, DGUOK, FBXL4, MFN2, MPV17, NDUFS1,
OPA1, OPA3, POLG, POLG2, RRM2B, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1,
TIMM8A, TK2, TMEM126A, TYMP, WFS1
AARS2, ABCB7, ACAD9, ACADL, ACADM, ACADS, ACADVL, ADCK3, AFG3L2,
AIFM1, ALAS2, APTX, ATP5E, ATPAF2, AUH, BCS1L, BOLA3, C10ORF2,
C12ORF65, CISD2, COA5, COQ2, COQ6, COQ9, COX10, COX15, COX6B1, CPT1A,
CPT2, DARS2, DGUOK, DLAT, DLD, DNAJC19, DNM1L, ETFA, ETFB, ETFDH,
ETHE1, FASTKD2, FBP1, FH, FOXRED1, G6PC, GAMT, GATM, GFER, GFM1,
GYS2, HARS2, HLCS, HADH, HADHA, HSPD1, ISCU, LRPPRC, MFN2, MPV17,
MRPS16, MRPS22, MTFMT, MTPAP, NDUFA1, NDUFA10, NDUFA11, NDUFA12,
NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFB3, NDUFB9,
NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1,
NDUFV2, NFU1, NUBPL, OPA1, OPA3, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1,
PDSS2, PDX1, POLG, POLG2, PUS1, RARS2, REEP1, RRM2B, SARS2, SCO1, SCO2,
SDHA, SDHAF1, SETX, SLC19A3, SLC25A20, SLC25A3, SLC25A4, SLC6A8,
SLC37A4, SOD1, SPG7, SUCLA2, SUCLG1, SURF1, TACO1, TAZ, TIMM8A, TK2,
TMEM126A, TMEM70, TRMU, TSFM, TTC19, TUFM, TYMP, UQCRB, UQCRQ,
WFS1, YARS2
VPS13B, WDPCP
ABCD4, ACAT1, ACSF3, BCKDHA, BCKDHB, CBS, CD320, DBT, DLD, ETFA, ETFB,
ETFDH, GCDH, GIF, HCFC1, HMGCL, IVD, LMBRD1, MCCC1, MCCC2, MCEE, MMAA,
MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, PCCA, PCCB, TCN2
CACNA1S, CLCN1, KCNJ2, SCN4A
ABCD1, ACOX1, AMACR, GNPAT, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13,
PEX16, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH
ALAD, ALAS2, CPOX, FECH, HFE, HMBS, PPOX, UROD, UROS
CD151, COL4A3, COL4A4, COL4A5, COL4A6, MYH9
ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP290, IFT172,
MKKS, MKS1, SDCCAG8, TMEM67, TRIM32, TTC8
BSND, CASR, CLCNKA, CLCNKB, GNA11, KCNJ1, SLC12A1, SLC12A3
EYA1, SIX1, SIX5, TFAP2A
AHI1, ALMS1, ANKS6, ARL13B, ARL6, ARMC4, B9D1, B9D2, BBS1, BBS10, BBS12,
BBS2, BBS4, BBS5, BBS7, BBS9, C21ORF59, C5ORF42, CC2D2A, CCDC103, CCDC114,
CCDC39, CCDC40, CCDC65, CCNO, CENPF, CEP164, CEP290, CEP41, CEP83, CFTR,
CSPP1, DCDC2, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH11, DNAH5, DNAI1,
DNAI2, DNAL1, DRC1, DYX1C1, GLIS2, HYDIN, IFT172, INPP5E, INVS, IQCB1,
KIAA0586, KIF7, LRRC6, MKKS, MKS1, NEK8, NME8, NPHP1, NPHP3, NPHP4, OFD1,
RPGR, RPGRIP1L, RSPH1, RSPH4A, RSPH9, SDCCAG8, SPAG1, TCTN1, TCTN2, TCTN3,
TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TRIM32, TTC21B,
TTC8, WDR19, ZMYND10, ZNF423
BICC1, EYA1, HNF1B, PAX2, PKD1, PKD2, PKHD1, SIX5, UMOD

AQP2, AVP, AVPR2
ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE,
THBD
CLCN5, DMP1, ENPP1, FAH, FGF23, KL, PHEX, SLC34A1, SLC34A3, VDR
AHI1, ARL13B, B9D1, B9D2, C5ORF42, CC2D2A, CEP164, CEP290, CEP41, CSPP1,
INPP5E, KIAA0586, KIF7, MKS1, NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, TCTN2,
TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B,
ZNF423
SCNN1B, SCNN1G
B9D1, B9D2, CC2D2A, CEP290, MKS1, NPHP3, RPGRIP1L, TCTN2, TMEM216,

TMEM231, TMEM67
VPS13B, WDPCP
ANKS6, CEP164, CEP290, CEP83, DCDC2, GLIS2, IFT172, INVS, IQCB1, NEK8, NPHP1,
NPHP3, NPHP4, RPGRIP1L, SDCCAG8, TMEM67, TTC21B, WDR19, ZNF423
ACTN4, ADCK4, ANLN, APOL1, ARHGAP24, ARHGDIA, CD2AP, COL4A3, COL4A4,

COL4A5, COQ2, CRB2, DGKE, EMP2, INF2, ITGA3, LAMB2, LMX1B, MYH9, MYO1E,
NPHS1, NPHS2, PLCE1, PTPRO, SCARB2, SMARCAL1, TRPC6, TTC21B, WT1
BICC1, LRP5, NOTCH2, PKD1, PKD2, PKHD1, PRKCSH, SEC63
ARMC4, C21ORF59, CCDC103, CCDC114, CCDC39, CCDC40, CCDC65, CCNO, CENPF,

CFTR, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2,
DNAL1, DRC1, DYX1C1, HYDIN, INVS, LRRC6, NME8, OFD1, RPGR, RSPH1, RSPH4A,
RSPH9, SPAG1, ZMYND10
AGXT, GRHPR, HOGA1
CUL3, HSD11B2, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4
ACE, BMP4, DSTYK, EYA1, FANCB, FOXC2, FREM1, GATA3, HNF1B, PAX2, REN, RET,
SIX1, SIX5, WT1
ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4
CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8
ALS2, ANG, ATL1, BSCL2, CHCHD10, CHMP2B, DCTN1, FIG4, FUS, GBE1, GRN, HEXA,
HNRNPA1, HSPD1, KIAA0196, KIF5A, OPTN, PRF1, REEP1, SETX, SLC52A2, SLC52A3,
SOD1, SPAST, SPG11, SPG20, SQSTM1, TARDBP, UBQLN2, VAPB, VCP
ABCB7, ABHD12, ACO2, ADCK3, AFG3L2, AHI1, ALDH5A1, ANO10, APTX, ARL13B,
ARL6, ATCAY, ATM, ATN1, ATP8A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, BBS1,
BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEAN1, C10ORF2, C5ORF42, CA8,
CACNA1A, CACNB4, CAMTA1, CASK, CC2D2A, CCDC28B, CCDC88C, CEP290, CEP41,
CLCN2, CLN5, CLPP, COX20, CSTB, CWF19L1, CYP27A1, DNAJC19, DNMT1, EEF2,
ELOVL4, ELOVL5, FBXL4, FGF14, FLVCR1, FMR1, FXN, GBA2, GFAP, GOSR2, GRID2,
GRM1, GSS, HARS2, HTT, INPP5E, ITM2B, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10,
KIF1C, KIF7, LAMA1, LARS2, MARS2, MKKS, MKS1, MRE11A, MTPAP, MTTP, NEDD4,
NOL3, NOP56, NPHP1, OFD1, OPA1, OPHN1, PAX6, PDYN, PEX7, PHYH, PNKD, PNKP,
PNPLA6, POLG, PPP2R2B, PRKCG, PRRT2, RPGRIP1L, RUBCN, SACS, SETX, SIL1,
SLC1A3, SLC2A1, SLC52A2, SLC9A6, SNX14, SPG7, SPTBN2, STUB1, SYT14, TBP,
TCTN1, TCTN2, TCTN3, TDP1, TGM6, TMEM138, TMEM216, TMEM231, TMEM237,
TMEM240, TMEM67, TPP1, TRIM32, TTBK2, TTC8, TTPA, TUBB4A, VAMP1, VLDLR,
WDPCP, WDR81, WFS1, WWOX, ZNF423, ZNF592
CACNA1C, DHCR7, EN2, GAMT, MECP2, NLGN3, NLGN4X, NSD1, PDE8B, PTEN,
RPL10, TSC1, TSC2
AFG3L2, ASAH1, ATP13A2, CERS1, CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF,
DNAJC5, EPM2A, FOLR1, GOSR2, GRN, KCNC1, KCTD7, MFSD8, NEU1, NHLRC1, PPT1,
PRICKLE1, PRICKLE2, SCARB2, SERPINI1, TBC1D24, TPP1
AARS, AIFM1, AMACR, ARHGEF10, ATL1, ATL3, ATP7A, BAG3, BSCL2, C12ORF65,
CCT5, COX10, COX6A1, CTDP1, DCAF8, DCTN1, DHTKD1, DNM2, DNMT1, DST,
DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, FXN, GAN, GARS, GDAP1, GJB1,
GNB4, GNE, HADHB, HARS, HINT1, HK1, HSPB1, HSPB8, IGHMBP2, INF2, KARS,
KIF1A, KIF1B, KIF5A, LDB3, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ,
MTMR2, MYOT, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, POLG, PRPS1,
PRX, RAB7A, REEP1, SACS, SBF1, SBF2, SCN9A, SETX, SH3TC2, SLC12A6, SMAD3,
SPG11, SPTLC1, SPTLC2, SURF1, TFG, TRIM2, TRPV4, TYMP, VCP, WNK1, YARS
ADCK3, ANO10, APTX, COQ2, COQ6, COQ9, ETFA, ETFB, ETFDH, PDSS1, PDSS2
ASCL1, BDNF, BMP2, EDN3, PHOX2A, PHOX2B, RET
AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, DPAGT1,
GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A, STIM1
APOE, APP, CHMP2B, CSF1R, FUS, GRN, MAPT, PRNP, PSEN1, PSEN2, SIGMAR1,
SORL1, TARDBP, TREM2, UBE3A, UBQLN2, VCP
GCH1 (DYT5), TH, SGCE (DYT11), SPR, ATP1A3 (DYT12), PRKRA (DYT16)
ABCD1, ADAR, ADSL, AFG3L2, AGA, AIMP1, ALDH5A1, ALDH7A1, ALG13, AMACR,
AMT, ARG1, ARHGEF9, ARSA, ARX, ASAH1, ASPA, ATP13A2, ATRX, BTD, CACNA1A,
CACNA1H, CACNB4, CASK, CASR, CDKL5, CERS1, CHD2, CHRNA2, CHRNA4,
CHRNB2, CLCN2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, COL4A1, COX15, CPT2, CSF1R,
CSTB, CTSD, CTSF, CUL4B, DARS2, DCX, DEPDC5, DNAJC5, DNM1, DOCK7, DPYD,
EARS2, EEF1A2, EFHC1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPM2A, ETFA, ETFB,
ETFDH, FAM126A, FH, FLNA, FOLR1, FOXG1, FOXRED1, GABRA1, GABRB3, GABRG2,
GALC, GAMT, GCDH, GCH1, GFAP, GJC2, GLDC, GNAO1, GNE, GOSR2, GPHN, GRIA3,
GRIN2A, GRIN2B, GRN, HCN1, HEPACAM, HNRNPU, HSD17B10, HSPD1, IQSEC2,
KCNA1, KCNA2, KCNB1, KCNC1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KIF1A,
L2HGDH, LGI1, MARS2, MBD5, MECP2, MED12, MEF2C, MFSD8, MLC1, MOCS1,
MTHFR, MTOR, NDUFAF5, NECAP1, NEU1, NHLRC1, NOTCH3, NRXN1, OFD1, OPHN1,
PCDH19, PGK1, PHF6, PIGA, PLCB1, PLP1, PNKP, PNPO, POLR3A, POLR3B, PPT1,
PRICKLE1, PRICKLE2, PRODH, PRRT2, PSAP, PTS, PURA, QDPR, RAB39B, RELN,
RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCARB2, SCN1A, SCN1B,
SCN2A, SCN8A, SCN9A, SERPINI1, SIK1, SLC12A5, SLC13A5, SLC19A3, SLC25A15,
SLC25A22, SLC2A1, SLC35A2, SLC46A1, SLC6A1, SLC6A8, SLC9A6, SMS, SNAP25,
SOX10, SPTAN1, ST3GAL3, ST3GAL5, STX1B, STXBP1, SUMF1, SUOX, SYN1,
SYNGAP1, SZT2, TBC1D24, TCF4, TPP1, TREX1, TSC1, TSC2, TUBB4A, UBE2A, UBE3A,
WDR45, WWOX, ZEB2
ADAR, ADSL, ALDH7A1, ALG13, AMT, ARHGEF9, ARX, CACNA1A, CASK, CDKL5,
CHD2, CNTNAP2, CPT2, DCX, DNM1, DOCK7, EEF1A2, FLNA, FOXG1, GABRA1,
GABRB3, GABRG2, GAMT, GLDC, GNAO1, GPHN, GRIN2A, GRIN2B, HCN1,
HEPACAM, HNRNPU, KCNA2, KCNB1, KCNQ2, KCNQ3, KCNT1, KIF1A, MBD5,
MECP2, MEF2C, MOCS1, MTHFR, NECAP1, NRXN1, PCDH19, PIGA, PLCB1, PNKP,
PNPO, PURA, RNASEH2A, RNASEH2B, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A,
SIK1, SLC12A5, SLC13A5, SLC19A3, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SLC9A6,
SNAP25, SPTAN1, ST3GAL3, ST3GAL5, STXBP1, SYN1, SYNGAP1, SZT2, TBC1D24,
TCF4, TREX1, TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2
ABCD1, ADAR, AIMP1, ARSA, ASPA, CLCN2, COL4A1, COX15, CSF1R, DARS2, EARS2,
EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FOLR1, FOXRED1, GALC, GFAP,
GJC2, HEPACAM, HSPD1, L2HGDH, MARS2, MLC1, NDUFAF5, NOTCH3, PLP1,
POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1,
SOX10, SUMF1, TREX1, TUBB4A
AP4B1, AP4E1, AP4M1, AP4S1, CA8, CC2D1A, CNTNAP2, CRBN, ERLIN2, GRIK2,
MAN1B1, NRXN1, PRSS12, ST3GAL3, STXBP1, TRAPPC9, TUSC3, VLDLR, ZC3H14,
ZNF526
ABCD1, ACSL4, AFF2, AGTR2, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A,
ATRX, BCOR, BRWD3, CASK, CDKL5, CUL4B, DCX, DKC1, DLG3, ELK1, FANCB,
FGD1, FLNA, FMR1, FTSJ1, GDI1, GK, GPC3, GRIA3, HCCS, HPRT1, HSD17B10,
HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KIAA2022, KLF8, L1CAM, LAMP2,
MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1, MTM1, NDP, NDUFA1, NHS, NLGN3,
NLGN4X, NSDHL, NXF5, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1,
PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, RAB39B, RPL10, RPS6KA3, SHROOM4,
SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TIMM8A,
TSPAN7, UBE2A, UPF3B, ZCCHC12, ZDHHC15, ZDHHC9, ZNF41, ZNF674, ZNF711,
ZNF81
AP4M1, ASPM, CASC5, CASK, CDK5RAP2, CENPJ, CEP63, CEP135, CEP152, EFTUD2,
IER3IP1, KIF11, MCPH1, NDE1, NHEJ1, PAFAH1B1, PCNT, PNKP, POMT1, SLC25A19,
STIL, TUBB2B, TUBGCP6, WDR62
ATP1A2, ATP1A3, CACNA1A, KCNK18, NOTCH3, POLG, PRRT2, SCN1A, SLC1A3,
SLC2A1
COL12A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3
B3GALNT2, B3GNT1, CHKB, COL12A1, COL6A1, COL6A3, DAG1, DPM1, DPM3, FKRP,
FKTN, GMPPB, GOSR2, ISPD, ITGA7, LAMA2, LARGE, LMNA, POMGNT1, POMGNT2,
POMK, POMT1, POMT2. ST3GAL4, TMEM5
DMD, EMD, FHL1, LMNA, TMEM43, TTN
ANO5, CAPN3, CAV3, COL4A1, COL4A2, DES, DMD, DNAJB6, DYSF, FKRP, FKTN,
GMPPB, ISPD, LAMA2, LARGE, LIMS2, LMNA, MYOT, PNPLA2, POMGNT1, POMT1,
POMT2, SGCA, SGCB, SGCD, SGCG, SMCHD1, TCAP, TNPO3, TOR1AIP1, TRAPPC11,
TRIM32, TTN
ACTA1, ANO5, CAPN3, CAV3, CFL2, COL12A1, COL4A1, COL4A2, COL6A1, COL6A2,
COL6A3, DES, DMD, DNAJB6, DYSF, EMD, FHL1, FKRP, FKTN, GMPPB, ISPD,
KBTBD13, KLHL40, KLHL41, LAMA2, LARGE, LIMS2, LMNA, LMOD3, MTM1, MYOT,
NEB, PNPLA2, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, SMCHD1,
TCAP, TMEM43, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TTN
AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, DPAGT1,
GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A, STIM1
AGRN, BLK, C5, CCL21, CCR6, CD2, CD28, CD40, CD58, CHAT, CHRNA1, CHRNB1,
CHRND, CHRNE, CHRNG, COLQ, DOK7, GFPT1, IL2, IL21, IL2RA, IL2RB,IL6ST, IRF5,
MUSK, PRDM1, PRKCQ, PTPRC, RAG1, RAPSN, RBPJ, SCN4A, STAT4, TAGAP,
TNFAIP3, TNFRSF14, TRAF1, TRAF3IP2, TRAF6, VAMP2
ACTA1, ATP2A1, BAG3, BIN1, CAV3, CFL2, CLCN1, CNTN1, COL6A1, COL6A2,
COL6A3, CRYAB, DES, DNM2, DYSF, FHL1, FLNC, GNE, ISCU, KBTBD13, LDB3,
MATR3, MTM1, MYH2, MYH7, MYOT, NEB, RYR1, SEPN1, TNNT1, TPM2, TPM3, TTN,
VCP
BIN1, CCDC78, DNM2, MTM1, MYF6, RYR1
ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DYSF, FHL1, FLNC, GNE, LDB3, MATR3,
MYH7, MYOT, TCAP, TIA1, TTN, VCP
ACTA1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, MTM1, NEB, TNNT1, TPM2, TPM3
PANK2, PLA2G6, C19ORF12, FTL, FA2H, ATP13A2, CP
ATP13A2, DNAJC6, FBXO7, LRRK2, MAPT, PARK2, PARK7, PINK1, PLA2G6, SLC6A3,
SNCA, VPS35
ADH1C, ATP13A2, ATP1A3, DCTN1, EIF4G1, FBXO7, GBA, GCH1, GIGYF2, HTRA2,
LRRK2, MAPT, PARK2, PARK7, PDXK, PINK1, PLA2G6, POLG1, SNCA, SNCAIP, SNCB,
UCHL1, VPS35
TAF1, SLC6A3, ATP1A3, PRKRA, PLA2G6
CACNA1S, CLCN1, KCNJ2, SCN4A
AFG3L2, ALS2, ATL1, B4GALNT1, BSCL2, C12ORF65, C19ORF12, CYP7B1, DDHD1,

DDHD2, FA2H, FXN, GALC, GBA2, GJC2, HSPD1, KDM5C, KIAA0196, KIF1A, KIF5A,
L1CAM, MARS2, NIPA1, PLP1, PNPLA6, REEP1, SACS, SETX, SLC16A2, SLC33A1,
SPAST, SPG11, SPG20, SPG7, SPR
ALS2, AP5Z1, ATL1, BSCL2, CCT5, CYP7B1, FA2H, GJC2, HSPD1, KDM5C,
KIAA0196, KIF1A, KIF5A, L1CAM, NIPA1, PLP1, PNPLA6, REEP1, SLC16A2,
SLC33A1, SPAST, SPG7, SPG11, SPG20, SPG21, ZFYVE26, ZFYVE27
AARS, ASAH1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1,

EXOSC3, EXOSC8, FBXO38, GARS, HEXA, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L,
PLEKHG5, REEP1, SCO2, SLC5A7, SMN1, SMN2, TRPV4, UBA1, VAPB, VRK1
EX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX12, PEX13, PEX14, PEX16,
PEX19, PEX26, PHYH
ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H
AP3B1, BLOC1S3, BLOC1S6, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST,
MC1R, MITF, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1
ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP290, IFT172,
MKKS, MKS1, SDCCAG8, TMEM67, TRIM32, TTC8
ABCB6, ADAMTSL4, AGK, ALDH18A1, BCOR, BFSP2, COL11A1, COL18A1, COL2A1,

COL4A1, CRYAA, CRYAB, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CYP27A1,
ERCC2, ERCC5, ERCC6, ERCC8, EYA1, FAM126A, FOXE3, FTL, FYCO1, FZD4, GALK1,
GALT, GCNT2, GJA1, GJA3, GJA8, HSF4, LIM2, MAF, MYH9, NDP, NF2, NHS, OCRL,
OPA3, PAX6, PITX3, RAB3GAP1, RECQL4, SIL1, SLC33A1, TDRD7, TFAP2A, TMEM70,
WFS1, WRN
ABCA4, ADAM9, AIPL1, BEST1, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1,

CERKL, CLN3, CNGA3, CNGB3, CNNM4, CRB1, CRX, CYP4V2, FBLN5, GNAT2,
GUCA1A, GUCY2D, KCNV2, MERTK, PDE6C, PDE6H, PROM1, PRPH2, RAX2, RDH5,
RPGR, RPGRIP1, SEMA4A
CABP4, CACNA1F, CACNA2D4, CYP4V2, GNAT1, GPR179, GRK1, GRM6, LRIT3, NYX,
PDE6B, RDH5, RHO, RLBP1, RPE65, SAG, TRPM1
CHST6, COL5A1, CYP4V2, FOXE3, GJA8, KRT12, LCAT, LOXHD1, MAF, PITX2,
SLC4A11, TCF4, TGFBI, ZEB1, ZNF469
CHST6, COL5A1, COL8A2, CYP4V2, DCN, GSN, KRT3, KRT12, LOXHD1, PIKFYVE,
PRDM5, SLC4A11, SOD1, ZEB1, ZNF469, TACSTD2, TCF4, TGFBI, UBIAD1, VSX1
LTBP2, ADAMTSL4, FBN1
ABCA4, CHM, CYP4V2, ELOVL4, PROM1, PRPH2, RDH5, RHO, RLBP1, RS1, VPS13B
CNTNAP2, COL4A1, CYP1B1, FOXC1, FOXE3, LMX1B, LTBP2, MAF, MYOC, OPA1,
OPA3, OPTN, PAX6, PITX2, TBK1, TMEM126A, WDR36
AHI1, ARL13B, B9D1, B9D2, C5ORF42, CC2D2A, CEP164, CEP290, CEP41, CSPP1,
INPP5E, KIAA0586, KIF7, MKS1, NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, TCTN2,
TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B,
ZNF423
AIPL1, ALMS1, BBS4, CABP4, CEP290, CNGA3, CRB1, CRX, DTHD1, GUCY2D,
IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MYO7A, NMNAT1, RD3, RDH12,
RDH5, RPE65, RPGRIP1, SPATA7, TULP1
ABCA4, BEST1, CERKL, CNGB3, CRB1, ELOVL4, FBLN5, IMPG1, PROM1, PRPH2,
RAX2, RDH12, RDH5, RLBP1, RP1L1, RPGR, RS1
ABCA4, ARMS2, C2, C3, C9, CCR3, CFB, CFH, CFI, CST3, CXCL8, CX3CR1, ERCC6,
FBLN5, HMCN1, HTRA1, IL6, IL1A, NLRP3, RAX2, TLR4
ABCB6, BCOR, BMP4, CHD7, COL4A1, CYP1B1, ERCC2, ERCC5, ERCC6, FOXC1,
FOXE3, FOXL2, FRAS1, FREM1, GJA1, HCCS, HESX1, NDP, OCRL, OTX2, PAX2, PAX6,
PITX2, PQBP1, RAB3GAP1, SHH, SIX3, SOX2, STRA6, TFAP2A, VPS13B, ZIC2
APTX, C10ORF2, C12ORF65, FRMD7, GPR143, HESX1, MFN2, NDUFS1, OPA1, OPA3,
OTX2, PAX6, POLG, ROBO3, RRM2B, SALL4, SETX, SLC25A4, SOX2, SPG7, TIMM8A,
TK2, TMEM126A, TUBB3, TYMP, WFS1
C12ORF65, MFN2, NDUFS1, OPA1, OPA3, POLG, SPG7, TIMM8A, TMEM126A, WFS1
ABCA4, ABHD12, ADAM9, ADGRV1, AHI1, AIPL1, ALMS1, ARL13B, ARL6, ATF6,
B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C2ORF71,
C5ORF42, C8ORF37, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CDH23, CDHR1,
CEP164, CEP290, CEP41, CERKL, CHM, CIB2, CLN3, CLRN1, CNGA1, CNGA3, CNGB1,
CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3,
CRB1, CRX, CSPP1, CYP4V2, DFNB31, DHDDS, DTHD1, EFEMP1, ELOVL4, EYS,
FAM161A, FBLN5, FLVCR1, FRMD7, FZD4, GNAT1, GNAT2, GNPTG, GPR179, GRK1,
GRM6, GUCA1A, GUCY2D, HARS, HK1, HMX1, IDH3B, IFT140, IFT172, IMPDH1,
IMPG1, IMPG2, INPP5E, INVS, IQCB1, KCNJ13, KCNV2, KIAA0586, KIF11, KIF7, KLHL7,
LCA5, LRAT, LRIT3, LRP2, LRP5, MAK, MERTK, MKKS, MKS1, MVK, MYO7A, NDP,
NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OAT, OFD1, OPA1, OPA3, OTX2,
PANK2, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX2, PEX7,
PHYH, PRCD, PROM1, PRPF3, PRPF31, PRPF8, PRPH2, RAX2, RBP3, RD3, RDH12,
RDH5, RGR, RHO, RLBP1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1,
SAG, SDCCAG8, SEMA4A, SNRNP200, SPATA7, TCTN1, TCTN2, TCTN3, TMEM107,
TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TRIM32,
TRPM1, TSPAN12, TTC21B, TTC8, TTPA, TULP1, USH1C, USH1G, USH2A, VCAN,
VPS13B, WDR19, ZNF423, ZNF513
ABCA4, ABHD12, AIPL1, ARL6, BBS1, BBS2, BEST1, C2ORF71, C8ORF37, CDHR1,
CEP290, CERKL, CHM, CLN3, CLRN1, CNGA1, CNGB1, CRB1, CRX, CYP4V2, DHDDS,
EYS, FAM161A, FLVCR1, GNPTG, GUCY2D, HK1, IDH3B, IMPDH1, IMPG2, KLHL7,
LCA5, LRAT, MAK, MERTK, MVK, NMNAT1, NR2E3, NRL, OAT, OFD1, PANK2,
PDE6A, PDE6B, PDE6G, PEX1, PEX2, PEX7, PHYH, PRCD, PROM1, PRPF3, PRPF31,
PRPF8, PRPH2, RBP3, RDH12, RDH5, RGR, RHO, RLBP1, RP1, RP2, RPE65, RPGR,
RPGRIP1, RS1, SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TTC8, TTPA, TULP1,
USH1C, USH2A, VPS13B, WDR19, ZNF513
ASCC3L1, CM, CRX, FSCN2, GUCA1B, IMPDH1, KU-1L7, NR2E3, NRL, PRPF3, PRPF8,
PRPF31, PRPH2-RDS, RDH12, RHO, ROM1, RP1, RP9, SEMA4A, TOPORS, VMD2-BEST1
BCA4, ASCC3L1, BEST1, C2ORF71, C8ORF37, CA4, CERKL, CLRN1, CNGA1, CNGB1,
CRB1, CRX, DHDDS, EYS, FAM161A, FSCN2, GUCA1B, IDH3B, IMPDH1, IMPG2,
KLHL7, LRAT, MAK, MERTK, NR2E3, NRL, OFD, PDE6A, PDE6B, PDE6G, PRCD,
PROM1, PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, RBP3, RDH12, RGR, RHO, RLBP1,
ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SPATA7, TTC8, TOPORS, TULP1,
USH2A, ZNF513
RB1
CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8
ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, FSCN2, PROM1, PRPH2,

RDH12, RP1L1, RPGR, TIMP3
COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, LRP2, VCAN
ABHD12, ADGRV1, CDH23, CIB2, CLRN1, DFNB31, HARS, MYO7A, PCDH15, PDZD7,
USH1C, USH1G, USH2A
ABHD12, CDH23, CLRN1, DFNB31, GPR98, HARS/USH3B, MYO7A, PCDH15, USH1C,
USH1G, USH1J, USH2A
ABHD12, CDH23, CIB2, CLRN1, COL4A6, DFNB31, DSPP (Excluding Exon 5), GIPC3,
GPR98, HARS, KARS, LHFPL5, LOXHD1, MYO7A, PCDH15, PDZD7, TNC, USH2A,
USH1C, USH1G
BEST1, CAPN5, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3,
FZD4, KCNJ13, LRP5, NDP, NR2E3, RS1, TSPAN12, VCAN
ABCA3, CCDC39, CCDC40, CFTR, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ,
CSF2RA, DKC1, DNAAF1, DNAAF2, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, EDN3,
EFEMP2, ELMOD2, ELN, FBLN5, FLCN, FOXF1, GLRA1, HPS1, HPS4, ITGA3, LTBP4,
MECP2, NF1, NKX2-1, NME8, PARN, PHOX2B, RAPSN, RET, RSPH4A, RSPH9, RTEL1,
SCN4A, SCNN1A, SCNN1B, SERPINA1, SFTPA1, SFTPA2, SFTPB, SFTPC, SLC34A2,
SLC6A5, SLC7A7, SMPD1, STAT3, TERC, TERT, TINF2, TSC1, TSC2, ZEB2
CCDC39, CCDC40, CFTR, DNAAF1, DNAAF2, DNAH11, DNAH5, DNAI1, DNAI2,

DNAL1, NME8, RSPH4A, RSPH9, SCNN1A, SCNN1B
CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, EDN3, GLRA1, MECP2, PHOX2B,
RAPSN, RET, SCN4A, SLC6A5, ZEB2
EFEMP2, ELN, FBLN5, FLCN, LTBP4, SERPINA1, TSC1, TSC2
ABCA3, CSF2RA, DKC1, ELMOD2, HPS1, HPS4, ITGA3, NF1, NKX2-1, PARN, RTEL1,
SFTPA1, SFTPA2, SFTPB, SFTPC, SLC34A2, SLC7A7, SMPD1, STAT3, TERC, TERT,
TINF2, TSC1, TSC2
ABCA3, FOXF1, NKX2-1, SFTPB, SFTPC
ARMC4, C21ORF59, CCDC103, CCDC114, CCDC39, CCDC40, CCDC65, CCNO, CENPF,

CFTR, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2,
DNAL1, DRC1, DYX1C1, HYDIN, INVS, LRRC6, NME8, OFD1, RPGR, RSPH1, RSPH4A,
RSPH9, SPAG1, ZMYND10
ACVRL1, BMPR2, CAV1, EIF2AK4, ENG, FOXF1, KCNA5, KCNK3, RASA1, SMAD4,
TBX4
WHOLE EXOME
WHOLE EXOME
WHOLE EXOME
WHOLE EXOME
WHOLE GENOME SEQUENCING (WGS) WITH GENOME-WIDE MICROARRAY

TESTING WITH WHOLE MITOCHONDRIAL GENOME SEQUENCING
WHOLE GENOME SEQUENCING (WGS) WITH GENOME-WIDE MICROARRAY

TESTING WITH WHOLE MITOCHONDRIAL GENOME SEQUENCING
RMS (NGS)
Sequencing 990

1600
1600
1600
1600
310
1600
Sequencing of 18 Genes and Deletion-Duplication Testing of 19
Genes
2160
1600
1600
1600
1600
Sequencing
2060
1600
1600
1600
1600
1600
1600
1600
1600
1600
Sequencing
2060
Sequencing
2010
1600
1600
Sequencing
1410
1600
1600
1600
1600
1600
1600
1600
Sequencing
2410
1600
1600
1600
Sequencing
1910
1600
1600
1600
1600
Sequencing
1610
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
Sequencing of 16 genes and repeat FMR1
3110
1600
Sequencing
2010
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
Sequencing
2110
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
Sequencing
2060
1600
1600
1600
Sequencing
1310
1600
1600
1600
1600
Sequencing
2060
1600
Sequencing
2060
1600
1600
1600
Sequencing
2410
1600
1600
1600
1600
1600
1600
1600
1600
1600
Sequencing
2060
1600
1600
1600
Sequencing
2060
1600
Sequencing
2110
Sequencing
2110
Sequencing
1960
Sequencing
2160
Sequencing
2160
1600
Sequencing
1310
Sequencing
2160
1600
1600
Sequencing
1510
1600
1600
1600
1600
1600
Sequencing
3410
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
Sequencing
1860
1600
1600
1600
1600
1600
1600
Sequencing and Deletion-Duplication Testing of entire
mitochondrial genome (16569 bp) including all the 37 genes (2
rRNA genes, 22 tRNA genes, and 13 protein-coding genes) and
non-coding regions
1110
1600
Sequencing
1260
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
Sequencing
1960
1600
1600
Sequencing
3210
1600
1600
1600
Sequencing
4260
1600
Sequencing
2110
1600
1600
Sequencing
2410
1600
1600
1600
1600
Sequencing
2360
Sequencing
2360
Sequencing
2010
Sequencing
2110
310
Sequencing
3260
1600
Sequencing
2360
Sequencing
3060
1600
1600
Sequencing
2410
1600
Sequencing
1810
1600
1600
1600
Sequencing
910
1600
1600
1600
1600
Sequencing
1860
Sequencing
1910
1600
1600
1600
1600
1600
Sequencing
2160
1600
1600
1600
1600
1600
Sequencing
2910
Sequencing
1910
1600
1600
Sequencing
3260
1600
1600
Sequencing
2410
Sequencing
1800
1600
1600
1600
1600
1600
1600
1600
1600
1600
1600
WES of patient only
1810
WES TRIO analysis of patient and 2 parents to detect de novo
variants
2810
WES of 2 sibs and 2 parents to detect autosomal recessive
variants
3010
WES of 3 affected family members to detect autosomal dominant
variants
3010
WGS of patient only
2910
WGS TRIO analysis of patient and 2 parents
5260
COPY NUMBER TESTS
Category Test Disease Pret

Copy Number Tests Any Gene Various 990
MITOCHONDRIAL TESTS
Category Test Disease

Mitochondrial Tests SEQUENCING OF THE COMPLETE VARIOUS MITOCHONDRIAL
MITOCHONDRIAL DNA AND DELETION- DISEASES
DEPLETION ANALYSIS OF MITOCHONDRIAL
DNA
Mitochondrial Tests NGS SEQUENCING OF 132 MITONUCLEAR GENES VARIOUS MITOCHONDRIAL

ENCODING MITOCHONDRIAL PROTEINS DISEASES
IAL TESTS

MTRNR1, MTRNR2, MTND1, MTND2, MTND3, MTND4L, MTND4,
MTND5, MTND6, MTCO1, MTCO2, MTCO3, MTATP8, MTATP6,
MTCYB, MTTF, MTTV, MTTL1, MTTI, MTTQ, MTTM, MTTW, MTTA,
MTTN, MTTC, MTTY, MTTS1, MTTD, MTTK, MTTG, MTTR, MTTH,
MTTS2, MTTL2, MTTE, MTTT, MTTP
1110
AARS2, ABCB7, ACAD9, ACADL, ACADM, ACADS, ACADVL,
ADCK3, AFG3L2, AIFM1, ALAS2, APTX, ATP5E, ATPAF2, AUH,
BCS1L, BOLA3, C10ORF2, C12ORF65, CISD2, COA5, COQ2, COQ6,
COQ9, COX10, COX15, COX6B1, CPT1A, CPT2, DARS2, DGUOK,
DLAT, DLD, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1,
FASTKD2, FBP1, FH, FOXRED1, G6PC, GAMT, GATM, GFER,
GFM1, GYS2, HARS2, HLCS, HADH, HADHA, HSPD1, ISCU,
LRPPRC, MFN2, MPV17, MRPS16, MRPS22, MTFMT, MTPAP,
NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFAF1,
NDUFAF2, NDUFAF3, NDUFAF4, NDUFB3, NDUFB9, NDUFS1,
NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1,
NDUFV2, NFU1, NUBPL, OPA1, OPA3, PC, PDHA1, PDHB, PDHX,
PDP1, PDSS1, PDSS2, PDX1, POLG, POLG2, PUS1, RARS2, REEP1,
RRM2B, SARS2, SCO1, SCO2, SDHA, SDHAF1, SETX, SLC19A3,
SLC25A20, SLC25A3, SLC25A4, SLC6A8, SLC37A4, SOD1, SPG7,
SUCLA2, SUCLG1, SURF1, TACO1, TAZ, TIMM8A, TK2,
TMEM126A, TMEM70, TRMU, TSFM, TTC19, TUFM, TYMP,
UQCRB, UQCRQ, WFS1, YARS2
1260
MOLECULAR TESTS FOR LEUKEMIA AND
LYMPHOMA
Category Test Disease Comment 1 Test Specification

Molecular Tests for 28 fusion products ACUTE LEUKEMIA Tests can be performed on Multiplex
Leukemia & Lymphoma: whole blood (>4ml) or
Fusion Genes bone marrow (>1ml)
stored in PAX RNA
tubes.
Molecular Tests for MLL / AF1p ACUTE LEUKEMIA Tests can be performed on t(1;11)(p32;q23)
stored in PAX RNA
tubes.
Molecular Tests for MLL / AF1q ACUTE LEUKEMIA Tests can be performed on t(1;11)(q21;q23)
stored in PAX RNA
tubes.
Molecular Tests for E2A / PBX1 ACUTE LEUKEMIA Tests can be performed on t(1;19)(q23;p13)
stored in PAX RNA
tubes.
Molecular Tests for AML / EAP / MDS / ACUTE LEUKEMIA Tests can be performed on t(3;21)(q26;q22)
Leukemia & Lymphoma: EVI1 whole blood (>4ml) or
stored in PAX RNA
tubes.
Molecular Tests for NPM / MLF1 ACUTE LEUKEMIA Tests can be performed on t(3;5)(q25.1;q34)
stored in PAX RNA
tubes.
Molecular Tests for MLL / AF4 ACUTE LEUKEMIA Tests can be performed on t(4;11)(q21;q23)
stored in PAX RNA
tubes.
Molecular Tests for TEL / PDGFRB ACUTE LEUKEMIA Tests can be performed on t(5;12)(q33;p13)
stored in PAX RNA
tubes.
Molecular Tests for NPM / RARA ACUTE LEUKEMIA Tests can be performed on t(5;17)(q35;q21)
stored in PAX RNA
tubes.
Molecular Tests for MLL / AF6 ACUTE LEUKEMIA Tests can be performed on t(6:11)(q27;q23)
stored in PAX RNA
tubes.
Molecular Tests for DEK / CAN ACUTE LEUKEMIA Tests can be performed on t(6;9)(p23;q34)
stored in PAX RNA
tubes.
Molecular Tests for AML1 / MGT8 ACUTE LEUKEMIA Tests can be performed on t(8;21)(q22;q22)
stored in PAX RNA
tubes.
Molecular Tests for MLL / AF9 ACUTE LEUKEMIA Tests can be performed on t(9;11)(p22;q23)
stored in PAX RNA
tubes.
Molecular Tests for TEL / ABL ACUTE LEUKEMIA Tests can be performed on t(9;12)(q34;p13)
stored in PAX RNA
tubes.
Molecular Tests for BCR / ABL ACUTE LEUKEMIA Tests can be performed on t(9;22)(q34;q11)
stored in PAX RNA
tubes.
Molecular Tests for SET / CAN ACUTE LEUKEMIA Tests can be performed on t(9;9)(q34;q34)
stored in PAX RNA
tubes.
Molecular Tests for MLL / AF10 ACUTE LEUKEMIA Tests can be performed on t(10;11)(p12;q23)
stored in PAX RNA
tubes.
Molecular Tests for MLL / AF17 ACUTE LEUKEMIA Tests can be performed on t(11;17)(q23;q21)
stored in PAX RNA
tubes.
Molecular Tests for PLZF / RARA ACUTE LEUKEMIA Tests can be performed on t(11;17)(q23;q21)
stored in PAX RNA
tubes.
Molecular Tests for MLL / ELL ACUTE LEUKEMIA Tests can be performed on t(11;19)(q23;p13.1)
stored in PAX RNA
tubes.
Molecular Tests for MLL / ENL ACUTE LEUKEMIA Tests can be performed on t(11;19)(q23;p13.3)
stored in PAX RNA
tubes.
Molecular Tests for TEL / AML1 ACUTE LEUKEMIA Tests can be performed on t(12;21)(p13;q22)
stored in PAX RNA
tubes.
Molecular Tests for TEL / MN1 ACUTE LEUKEMIA Tests can be performed on t(12;22)(p13;q11)
stored in PAX RNA
tubes.
Molecular Tests for PML / RARA ACUTE LEUKEMIA Tests can be performed on t(15;17)(q22;q21)
stored in PAX RNA
tubes.
Molecular Tests for TLS / ERG ACUTE LEUKEMIA Tests can be performed on t(16;21)(q11;q22)
stored in PAX RNA
tubes.
Molecular Tests for E2A / HLF ACUTE LEUKEMIA Tests can be performed on t(17;19)(q22;p13)
stored in PAX RNA
tubes.
Molecular Tests for CBFb / MYH11 ACUTE LEUKEMIA Tests can be performed on inv(16)(p13;q22)
stored in PAX RNA
tubes.
Molecular Tests for MLL / AFX ACUTE LEUKEMIA Tests can be performed on t(X;11)(q13;q23)
stored in PAX RNA
tubes.
Molecular Tests for SIL / TAL1 ACUTE LEUKEMIA Tests can be performed on TAL1deletion(p34)
stored in PAX RNA
tubes.
Molecular Tests for OTT / MAL AML Tests can be performed on t(1;22)(p13;q13)
stored in PAX RNA
tubes.
Molecular Tests for BCR / ABL CML Tests can be performed on t(9;22)(q34;q11)
stored in PAX RNA
tubes.
Molecular Tests for BCR / ABL CML Tests can be performed on t(9;22)(q34;q11)
stored in PAX RNA
tubes.
Molecular Tests for TEL / PDGFRB HYPEREOSINOPHILIC Tests can be performed on t(5;12)(q33;p13)
Leukemia & Lymphoma: SYNDROME whole blood (>4ml) or
stored in PAX RNA
tubes.
Molecular Tests for PCM1 / JAK2 LEUKEMIA Tests can be performed on t(8;9)(p21-23;p23-24)
stored in PAX RNA
tubes.
Molecular Tests for BCL-2 / JH LYMPHOMA Tests can be performed on t(14;18)(p32;q21)
stored in PAX RNA
tubes.
Molecular Tests for BCL-2 / JH LYMPHOMA Tests can be performed on t(14;18)(p32;q21)

stored in PAX RNA
tubes.
Molecular Tests for WT1 overexpression ACUTE LEUKEMIA Tests can be performed on
Gene Overexpression bone marrow (>1ml)
stored in PAX RNA
tubes.
Molecular Tests for cyclinD1 overexpression LYMPHOMA Tests can be performed on

stored in PAX RNA
tubes.
Molecular Tests for HOX11L2 overexpression T-ALL Tests can be performed on

stored in PAX RNA
tubes.
Molecular Tests for IgH gene rearrangement LYMPHOMA OR Tests can be performed on
Leukemia & Lymphoma: ( FR2, FR3 ) ACUTE LEUKEMIA whole blood (>4ml) or
Rearrangements in IGH bone marrow (>1ml)
or T-cell Receptor Genes stored in EDTA tubes.
Tests can also be
performed on biopsies
upon request (please
contact us in advance).
Molecular Tests for TCR Gamma gene LYMPHOMA OR Tests can be performed on
Leukemia & Lymphoma: rearrangement ( J, JP ) ACUTE LEUKEMIA whole blood (>4ml) or
Rearrangements in IGH bone marrow (>1ml)
or T-cell Receptor Genes stored in EDTA tubes.
Tests can also be
performed on biopsies
upon request (please
contact us in advance).
Molecular Tests for Internal Tandem ACUTE LEUKEMIA Tests can be performed on Responsiveness to
Leukemia & Lymphoma: Duplication (ITD) and DNA or whole EDTA Various FLT3 Inhibitors
Miscellaneous D835 in the FLT3 blood (>4ml) tubes.
(Receptor Tyrosine
Kinase) Gene, with Exon
12 Insertion in the NPM1
Gene
Molecular Tests for STR Markers Bone Marrow Tests can be performed on Chimerism
Leukemia & Lymphoma: Transplant: Engraftment DNA or whole EDTA
Miscellaneous Control blood (>4ml) tubes.
Molecular Tests for Mutations in Exons 4-10 CHRONIC MYELOID Tests can be performed on Gleevec/Imatinib
Leukemia & Lymphoma: of the ABL Gene LEUKEMIA AND DNA or whole EDTA Responsiveness
Miscellaneous (Including T315I) ACUTE LEUKEMIA blood (>4ml) tubes.
Molecular Tests for V617F Mutation in JAK2 CHRONIC Tests can be performed on
Leukemia & Lymphoma: MYELOMONOCYTIC DNA or whole EDTA
Miscellaneous LEUKEMIA (CMML) blood (>4ml) tubes.
Molecular Tests for SLC2A1 COLORECTAL Tests can be performed on V600E Variant
Leukemia & Lymphoma: CANCER, DNA or whole EDTA
Miscellaneous MELANOMA, blood (>4ml) tubes.
THYROID CANCER,
ASTROCYTOMA,NONS
EMINOMATOUS
GERM CELL TUMORS
Molecular Tests for V617F Mutation in JAK2 ESSENTIAL Tests can be performed on
Leukemia & Lymphoma: THROMBOCYTHEMIA DNA or whole EDTA
Miscellaneous blood (>4ml) tubes.
Molecular Tests for V617F Mutation in JAK2 HYPEREOSINOPHILIC Tests can be performed on
Leukemia & Lymphoma: SYNDROME DNA or whole EDTA
Molecular Tests for D816V Mutation in KIT; MAST CELL Tests can be performed on Gleevec/Imatinib
Leukemia & Lymphoma: Negative samples are LEUKEMIA DNA or whole EDTA Responsiveness
Miscellaneous further screened for blood (>4ml) tubes.
mutations in KIT exons 8,
9 AND 11
Molecular Tests for D816V Mutation in KIT; MASTOCYTOSIS Tests can be performed on Gleevec/Imatinib
Leukemia & Lymphoma: Negative samples are DNA or whole EDTA Responsiveness
Miscellaneous further screened for blood (>4ml) tubes.
mutations in KIT exons 8,
9 AND 11
Molecular Tests for V617F Mutation in JAK2 MYELOID Tests can be performed on
Leukemia & Lymphoma: METAPLASIA WITH DNA or whole EDTA
Miscellaneous MYELOFIBROSIS blood (>4ml) tubes.
Molecular Tests for V617F Mutation in JAK2 NEUTROPHILIC Tests can be performed on
Leukemia & Lymphoma: LEUKEMIA (CNL) DNA or whole EDTA
Molecular Tests for V617F Mutation in JAK2 POLYCYTHEMIA Tests can be performed on
Leukemia & Lymphoma: VERA DNA or whole EDTA
Molecular Tests for V617F Mutation in JAK2 SYSTEMIC Tests can be performed on
Leukemia & Lymphoma: MASTOCYTOSIS DNA or whole EDTA
Molecular Tests for V617F Mutation in JAK2 THE Tests can be performed on
Leukemia & Lymphoma: MYELODYSPLASTIC DNA or whole EDTA
Miscellaneous SYNDROMES blood (>4ml) tubes.
Molecular Tests for 2 Common Mutations: VARIOUS TUMORS Tests can be performed on
Leukemia & Lymphoma: p.Val600Glu and DNA or whole EDTA
Miscellaneous p.Val600Phe blood (>4ml) tubes.
Pret
860
560
560
560
560
560
560
560
560
560
560
560
560
560
560
560
560
560
560
560
560
560
560
560
560
560
560
560
560
560
560
560
560
410
560
560
560
560
560
710
710
810
810
810
450
790
450
450
790
790
450
450
450
450
450
610
UNIPARENTAL DISOMY TESTS (UPD)
Category Test
UNIPARENTAL DISOMY TESTS (UPD) Chromosome 1
UNIPARENTAL DISOMY TESTS (UPD) Chromosome X
L DISOMY TESTS (UPD)
Comment Pret
Analysis of 3 Samples (Proband, Father and Mother) 610
FISH ANALYSES
Category Test
FISH Analyses: Microdeletion Syndromes 20p12 deletion
FISH Analyses: Microdeletion Syndromes 15q11 - q13 deletion
FISH Analyses: Microdeletion Syndromes 11p15.1 - p15.2 duplication
FISH Analyses: Microdeletion Syndromes 5p15.2 deletion
FISH Analyses: Microdeletion Syndromes 10p13 - p14 deletion
FISH Analyses: Microdeletion Syndromes 22q11.2 / 22q13 deletion
FISH Analyses: Microdeletion Syndromes Yp11.3 / Xp11.1-q11.1 deletion
FISH Analyses: Microdeletion Syndromes Xp22.3 / Xp11.1-q11.1 deletion
FISH Analyses: Microdeletion Syndromes 8q24 deletion
FISH Analyses: Microdeletion Syndromes 17q11.2 deletion
FISH Analyses: Microdeletion Syndromes Xp22.3 deletion

FISH Analyses: Microdeletion Syndromes 15q11 - q13 deletion
FISH Analyses: Microdeletion Syndromes Xpter - p22.32 deletion
FISH Analyses: Microdeletion Syndromes 17p11.2 / 17p13.3 deletion
FISH Analyses: Microdeletion Syndromes 5q35 deletion
FISH Analyses: Microdeletion Syndromes 16p13.3 - p13.12 deletion
FISH Analyses: Microdeletion Syndromes 4p16.1 / 4p11 - q11 deletion
FISH Analyses: Microdeletion Syndromes Yp11.3 / Xp11.1 - q11.1 translocation
FISH Analyses: Constitutional Aneuploidies Chromosome 18
FISH Analyses: Constitutional Aneuploidies Chromosome X / Y
FISH Analyses: Constitutional Aneuploidies Chromosome 13, 18, 21, X / Y

FISH Analyses: Leukemias and Lymphomas - -5 / 5q31
Deletions
FISH Analyses: Leukemias and Lymphomas - -7 / 7q31

Deletions
FISH Analyses: Leukemias and Lymphomas - 11q, 13q14.3, 17p13.3

Deletions
FISH Analyses: Leukemias and Lymphomas - 12

Aneuploidies
FISH Analyses: Leukemias and Lymphomas - X/Y

Aneuploidies
FISH Analyses: Leukemias and Lymphomas - FIP1L1-PDGFRA fusion

Aneuploidies
FISH Analyses: Leukemias and Lymphomas - E2A / PBX1

Translocations
FISH Analyses: Leukemias and Lymphomas - ETO / AML1
Translocations
FISH Analyses: Leukemias and Lymphomas - AF10

Translocations
FISH Analyses: Leukemias and Lymphomas - TEL / AML1

Translocations
FISH Analyses: Leukemias and Lymphomas - MLL

Translocations
FISH Analyses: Leukemias and Lymphomas - MLL

Translocations
FISH Analyses: Leukemias and Lymphomas - PML / RARA

Translocations
FISH Analyses: Leukemias and Lymphomas - RARA break apart

Translocations
FISH Analyses: Leukemias and Lymphomas - CBFB
Translocations
FISH Analyses: Leukemias and Lymphomas - IGH / MYC

Translocations
FISH Analyses: Leukemias and Lymphomas - BCR / ABL

Translocations
FISH Analyses: Leukemias and Lymphomas - BCR / ABL

Translocations
FISH Analyses: Leukemias and Lymphomas - IgH / BCL2

Translocations
FISH Analyses: Leukemias and Lymphomas - ALK

Translocations
FISH Analyses: Leukemias and Lymphomas - IgH break apart

Translocations
FISH Analyses: Leukemias and Lymphomas - BCL6
Translocations
FISH Analyses: Leukemias and Lymphomas - PAX5 / IGH

Translocations
FISH Analyses: Leukemias and Lymphomas - EVI1

Translocations
FISH Analyses: Leukemias and Lymphomas - EVI1

Translocations
FISH Analyses: Leukemias and Lymphomas - MALT1

Translocations
FISH Analyses: Leukemias and Lymphomas - IgH / CCND1

Translocations
FISH Analyses: Leukemias and Lymphomas - IgH / CCND1

Translocations
FISH Analyses: Leukemias and Lymphomas - IgH / MAF
Translocations
FISH Analyses: Leukemias and Lymphomas - REL

Amplifications
FISH Analyses: Solid Tumors - Deletions 3p25
FISH Analyses: Solid Tumors - Deletions 11q13
FISH Analyses: Solid Tumors - Gains 17q23 - qter
FISH Analyses: Solid Tumors - Translocations PAX / FKHR
FISH Analyses: Solid Tumors - Translocations PAX / FKHR
FISH Analyses: Solid Tumors - Translocations FUS / CHOP
FISH Analyses: Solid Tumors - Translocations ETV6 / NTRK3
FISH Analyses: Solid Tumors - Translocations EWS / CHN

FISH Analyses: Solid Tumors - Translocations EWSR1
FISH Analyses: Solid Tumors - Translocations SYT/SSX
FISH Analyses: Solid Tumors - Translocations HMGIC
FISH Analyses: Solid Tumors - Translocations
FISH Analyses: Solid Tumors - Amplifications MYCN
FISH Analyses: Solid Tumors - Amplifications EGFR

FISH ANALYSES
Disease
ALAGILLE, AGS
» ARTERIOHEPATIC DYSPLASIA
ANGELMAN, AS
» HAPPY PUPPET SYNDROME
BECKWITH-WIEDEMANN, BWS
» EXOMPHALOS-MACROGLOSSIA-GIGANTISM
SYNDROME
CRI DU CHAT
» CAT CRY SYNDROME
DIGEORGE, DGS
DIGEORGE, DGS
GONADAL DYSGENESIS
» XY FEMALE
» SWYER SYNDROME
» DELETION SEX-DETERMINING REGION Y, SRY
KALLMANN, KAL1
» HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA
KALLMANN, KAL2
» HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA
LANGER–GIEDION, LGS
» TRICHO RHINO PHALANGEAL SYNDROME TYPE 2,
TRPS2
MENTAL RETARDATION AND CONGENITAL HEART
DEFECT
MENTAL RETARDATION
NEUROFIBROMATOSIS, TYPE 1, NF1
MICROPHTHALMIA WITH LINEAR SKIN DEFECTS

» MIDAS SYNDROME
MILLER-DIEKER, MDLS, MDS
» LISSENCEPHALY
PRADER - WILLI, PWS
RUBINSTEIN-TAYBI, RSTS
SHORT STATURE, SS
SMITH-MAGENIS, SMS
SOTOS
» CEREBRAL GIGANTISM
TSC2 - PKD1 DELETION
VELOCARDIOFACIAL, VCF
» SHPRINTZEN
» CATCH22
WAGR
» WILMS TUMOR, WT1
» WILMS TUMOR-ANIRIDIA-GENITOURINARY
ANOMALIES-MENTAL RETARDATION SYNDROME
WILLIAMS-BEUREN, WBS
WOLF-HIRSCHHORN, WHS
XX MALE
» TRANSLOCATION SEX-DETERMINING REGION Y, SRY
EDWARDS SYNDROME
» TRISOMY 18
DOWN SYNDROME
» TRISOMY 21
PATAU SYNDROME
» TRISOMY 13
SEX-CHROMOSOME ANEUPLOIDIES
ANEUPLOIDY ASSAY
MYELODYSPLASTIC SYNDROME, MDS
B-CELL CHRONIC LYMPHATIC LEUKEMIA, B-CLL
B-CELL CHRONIC LYMPHATIC LEUKEMIA, B-CLL
MYELOPROLIFERATIVE DISEASE, MPD
HYPEREOSINOPHILIC SYNDROME
ACUTE LYMPHATIC LEUKEMIA, ALL

ACUTE MYELOID LEUKEMIA , AML
ACUTE MYELOID LEUKEMIA, AML
ACUTE MYELOID LEUKEMIA , AML
ACUTE MYELOID LEUKEMIA, AML - M3

BURKIT LYMPHOMA, BL
CHRONIC MYELOID LEUKEMIA, CML
FOLLICULAR LYMPHOMA , FL
NON HODGKIN LYMPHOMA , NHL

MANTLE CELL LYMPHOMA , MCL
MANTLE CELL LYMPHOMA , MCL
MULTIPLE MYELOMA , MM
MULTIPLE MYELOMA
HODGKIN LYMPHOMA
RENAL CELL CARCINOMA NEUROBLASTOMA
RENAL CELL CARCINOMA PHEOCHROMOCYTOMA

NEUROBLASTOMA
WILMS TUMOR
NEUROBLASTOMA
NEUROBLASTOMA
ALVEOLAR RHABDOMYOSARCOMA
ALVEOLAR RHABDOMYOSARCOMA
MYXOID LIPOSARCOMA
CONGENITAL FIBROSARCOMA
EXTRASKELETAAL MYXOID CHONDROSARCOMA

EWING SARCOMA DESMOPLASTIC ROUND CELL TUMOR
SYNOVIAL SARCOMA
LIPOMA LEIOMYOMA
TERATOMA GERM CELL TUMOR
NEUROBLASTOMA
MEDULLOBLASTOMA
Comment Pret
Please send at least 3 ml of heparinised (Na of Li) whole blood, or 10 to 20

ml of amniotic fluid, or at least 10 mg of chorionic villi.
710
710
710
610
710
610
710
710
710
610
710
610
710
710
610
610
710
710
610
710
710
610
710
610
610
710
710
560
710
560
560
Please send at least 3 ml of bone marrow in Na or Li heparine vacutainers
containing sterile transport medium (RPMI plus 10% FCS), or at least 5 mg
of biopsy in a sterile recipient with transport medium (RPMI plus 10%
FCS), or freshly made, unfixed bone marrow smears, or touch slides (for
lymphomas, only briefly touch the slide on at least 3 areas, adherent cell
clumps should be hardly visible by the eye).
610
610
810
710
710
610
710
710
710
610
710
710
610
710
610
610
610
610
610
610
710
710
710
710
710
660
660
660
710
710
Please send 5-10 mg of tumor biopsy in a sterile recipient with transport
medium (RPMI plus 10% FCS) or freshly made touch slides (only briefly
touch the slide on at least 3 areas, adherent cell clumps should be hardly
visible by the eye).
710
610
710
710
710
710
710
710
710
710
760
710
710
710
710
4760
HLA TYPING TESTS
Category Test Test Specification Pret

HLA Typing Tests HLA-A / B / C / DRB1 / DQB1 / DPB1 High (4 digits) Resolution
510
HLA Typing Tests HLA-DPA1 High (4 digits) Resolution 410
HLA Typing Tests HLA-DQA1 High (4 digits) Resolution 410
HLA Typing Tests HLA-DRB3 / B4 / B5 High (4 digits) Resolution 360
HLA Typing Tests HLA B27 360
GENOMIC IDENTITY TESTS
Category Test
Genomic Identity Tests: At-Home Paternity Tests STANDARD PATERNITY TEST (Alleged Father and Child)
Genomic Identity Tests: At-Home Paternity Tests ADDITIONAL CHILD OR ALLEGED FATHER
Genomic Identity Tests: At-Home Maternity Tests STANDARD MATERNITY TEST (Alleged Mother and Child)
Genomic Identity Tests: At-Home Maternity Tests ADDITIONAL CHILD OR ALLEGED MOTHER
Genomic Identity Tests: Legal Paternity Tests STANDARD PATERNITY TEST (Alleged Father and Child)
Genomic Identity Tests: Legal Paternity Tests ADDITIONAL CHILD OR ALLEGED FATHER
Genomic Identity Tests: Legal Maternity Tests STANDARD MATERNITY TEST (Alleged Mother and Child)
Genomic Identity Tests: Legal Maternity Tests ADDITIONAL CHILD OR ALLEGED MOTHER
Genomic Identity Tests: Twin Zygosity Tests STANDARD TWIN TEST (2 Twins)
Genomic Identity Tests: Twin Zygosity Tests ADDITIONAL TWIN
Genomic Identity Tests: Brother Tests STANDARD BROTHER TEST (2 Brothers)
Genomic Identity Tests: Brother Tests ADDITIONAL BROTHER
Genomic Identity Tests: Sister Tests STANDARD BROTHER TEST (2 Sisters)
Genomic Identity Tests: Sister Tests ADDITIONAL SISTER
Pret
600
410
600
410
950
460
950
460
600
410
600
410
600
410

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MOLECULAR TESTS

Category Test Disease Pret

» HYPOADRENALISM WITH ACHALASIA

» ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMA

Molecular Tests ACAD8 (ACYL-CoA DEHYDROGENASE FAMILY, » ADRENOMYELONEUROPATHY,

Molecular Tests ACADS (ACYL-CoA DEHYDROGENASE, SHORT-CHAIN) SCAD DEFICIENCY 920

Molecular Tests ACADSB (ACYL-CoA DEHYDROGENASE, » SHORT-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY

Molecular Tests ACE (ANGIOTENSIN I-CONVERTING RENAL TUBULAR DYSGENESIS 2110

Molecular Tests ACTA1 (ACTIN) ACTIN MYOPATHY 810

Molecular Tests ACTA1 (ACTIN) NEMALINE MYOPATHY 3, NEM3 810

Molecular Tests ACTA1 (ACTIN) NEMALINE MYOPATHY 2, NEM2 810

» ASYMMETRIC SEPTAL HYPERTROPHY

Molecular Tests AGL (AMYLO-1,6-GLUCOSIDASE, 4-ALPHA- » SUCCINYLPURINEMIC

Molecular Tests AGPAT2 (1-@ACYLGLYCEROL-3-PHOSPHATE O- LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 860

» ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY

» ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY

» ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY

» AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY,

» AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE 1

» HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL

Molecular Tests ALAS2 (DELTA-AMINOLEVULINATE SYNTHASE 2; ANEMIA, SIDEROBLASTIC (X-LINKED) 580

Molecular Tests ALDH3A2 (FALDH, ALDH10) SJOGREN-LARSSON SYNDROME 1870

Molecular Tests ALDH7A1 (ATQ1; ALDEHYDE DEHYDROGENASE 7 » FATTY ALDEHYDE

Molecular Tests ALMS1 ALSTROM SYNDROME, ALMS 1410

Molecular Tests AMPD1 (AMP DEAMINASE) MYOADENYLATE DEAMINASE DEFICIENCY 2080

Molecular Tests AMPD1 (AMP DEAMINASE) MYOADENYLATE DEAMINASE DEFICIENCY 560

Molecular Tests AMT (AMINOMETHYLTRANSFERASE, GLYCINE NONKETOTIC HYPERGLYCINEMIA 1160

Molecular Tests APC POLYPOSIS COLI, ADENOMATOUS 1100

» FAMILIAL ADENOMATOUS POLYPOSIS, FAP

» FAMILIAL ADENOMATOUS POLYPOSIS, FAP

Molecular Tests APOB (APOLIPOPROTEIN B, APOB100, APOB48) HYPOBETALIPOPROTEINEMIA, FAMILIAL 4260

» ABETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC, STEINBERG TYPE

Molecular Tests APOB (APOLIPOPROTEIN B, APOB100, APOB48) HYPERCHOLESTEROLEMIA 510

Molecular Tests APOC2 (APOLIPOPROTEIN C2) HYPERCHYLOMICRONEMIA 610

Molecular Tests APOE (APOLIPOPROTEIN E) » APOLIPOPROTEIN C2 DEFICIENCY

Molecular Tests APP ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 1, AD1 909

Molecular Tests APP ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 1, AD1 910

Molecular Tests APP CEREBRAL AMYLOID ANGIOPATHY 1010

Molecular Tests APP CEREBRAL AMYLOID ANGIOPATHY 909

Molecular Tests APP CEREBRAL AMYLOID ANGIOPATHY 910

Molecular Tests AR (ANDROGEN RECEPTOR) HYPOSPADIAS (X-LINKED) 1005

Molecular Tests AR (ANDROGEN RECEPTOR) REIFENSTEIN SYNDROME 1005

Molecular Tests AR (ANDROGEN RECEPTOR) KENNEDY DISEASE 760

Molecular Tests ARSA (ARYLSULFATASE A, CEREBROSIDE-SULFATASE) METACHROMATIC LEUKODYSTROPHY 910

Molecular Tests ARSB (ARYLSULFATASE B, N- MUCOPOLYSACCHARIDOSIS TYPE 6, MPS6 1160

Molecular Tests ARX INFANTILE SPASMS (X-LINKED), ISS X 760

Molecular Tests ASCC3L1 (SMALL NUCLEAR RIBONUCLEOPROTEIN, » MENTAL PIGMENTOSA,

Molecular Tests ASL (ARGININOSUCCINATE LYASE, ARGININOSUCCINIC ACIDURIA 1700

Molecular Tests ASPA (ASPARTOACYLASE) CANAVAN DISEASE 810

» CANAVAN-VAN BOGAERT-BERTRAND DISEASE

Molecular Tests AT3 (SERPINC1) ANTITHROMBIN 3 DEFICIENCY 770

Molecular Tests ATM » THROMBOPHILIA, HEREDITARY,

Molecular Tests ATP1A2 » LOUIS-BAR

Molecular Tests ATP1A2 FAMILIAL PARAPLEGIC MIGRAINE TYPE 2 1410

Molecular Tests ATP2A2 (ATP2B, SERCA2) » HOPF DISEASEDISEASE

Molecular Tests ATP5E (ATP SYNTHASE, H+ TRANSPORTING, » PEMPHIGUS, BENIGN

» RENAL TUBULAR ACIDOSIS, DISTAL, (AUTOSOMAL RECESSIVE) WITH LATE-ONSET

Molecular Tests ATP7A » OCCIPITALCUTIS

Molecular Tests ATP7A » OCCIPITAL

» KINKY HAIR DISEASE

Molecular Tests ATP7B » KINKY DISEASE

Molecular Tests ATP7B » HEPATOLENTICULAR

Molecular Tests ATP8B1 (FIC1) » HEPATOLENTICULAR