LABORATORY REPORT

Name : DANIEL BATISTA BRAGA Sex/Age : Male/1 Year H.ID : 231H01756 Case ID : 30102200314
Ref By : Dr. Maulik Kapadiya Dis.Loc. : Pt ID : 2497761
Bill. Loc : Genetic Diagnostic Center Pt. Loc. :
Registration Date & Time : 13-Jan-2023, 18:05 Sample Type : Dried Blood Ph # :
Sample Date & Time : 13-Jan-2023, 18:05 Sample Coll. By Spot (DBS) Ref Id : I0123015
Report Date & Time : 13-Jan-2023, 18:05 Acc. Remarks : Ref Id2 : SP-310
:

Interpretation
Dried blood spot analysis shows no abnormality detected for Amino acid disorders and Fatty acid disorders.
Remarks: Please correlate results with clinical history, other laboratory findings, and medication given to the patient.

Limitations:
 Some forms (genotypes) of these disorders may not be detected by neonatal screening or may not be detected in newborn dried blod spots.
 Newborn screen findings can reveal maternal defects in the case of several inborn errors of metabolism, including 3- methylcrotonylCoA carboxylase deficiency and carnitine transport defect, and
can reveal nutritional deficits in the mother.
 Newborn screening is designed to accept an increased false-positive rate to have an excellent sensitivity and negative predictive value.
 Some of the values might get altered in case of drugs taken prior to testing, hence considered during interpretation of data.

 A normal profile does not rule out inborn error of metabolism.

 LABORATORY REPORT
Name : DANIEL BATISTA BRAGA Sex/Age : Male/1 Year H.ID : 231H01756 Case ID : 30102200314
Ref By : Dr. Maulik Kapadiya Dis.Loc. : Pt ID : 2497761
Bill. Loc : Genetic Diagnostic Center Pt. Loc. :
Registration Date & Time : 13-Jan-2023, 18:05 Sample Type : Dried Blood Ph # :
Sample Date & Time : 13-Jan-2023, 18:05 Sample Coll. By Spot (DBS) Ref Id : I0123015
Report Date & Time : 13-Jan-2023, 18:05 Acc. Remarks : Ref Id2 : SP-310
:

Test Result

1. Amino acids metabolytes:

Sr. No. Metabolite Name Control Value Observed Value Sr. No. Metabolite Name Control Value Observed Value
1 Glycine 0 - 745 165.20 6 Citrulline 5 - 60 5.35

2 Alanine 74 - 613 159.73 7 Phenylalanine 21 - 155 47.08

3 Valine 41 - 233 85.30 8 Tyrosine 17 - 250 30.07

4 Leucine-lsoleucine 26 - 250 105.33 9 Ornithine 0 - 239 111.96

5 Methionine 1 - 54 11.02 10 Arginine 0 - 50 5.63

2. Fatty acids metabolytes:

Sr. No. Metabolite Name Control Value Observed Value Sr. No. Metabolite Name Control Value Observed Value
1 C0 7 - 125 11.71 16 C5DC 0 - 0.6 0.57

2 C2 1.5 - 80 24.35 17 C12:1 0 - 0.51 0.08

3 C3 0 - 6.3 0.67 18 C12 0 - 0.54 0.32

4 C3-DC+C4-OH 0 - 0.45 0.10 19 C14:2 0 - 0.13 0.02

5 C4 0 - 1.7 0.30 20 C14:1 0 - 0.8 0.07

6 C4-DC 0 - 1.29 0.03 21 C14 0 - 1.2 0.1

7 C5 0 - 1.0 0.13 22 C14-OH 0 - 0.2 0.01

8 C5:1 0 - 0.9 0.01 23 C16:1 0 - 1.4 0.05

9 C6 0 - 0.95 0.13 24 C16 0 - 10 0.7

10 C5-OH 0 - 0.95 0.12 25 C16-OH 0 - 0.1 0.03

11 C8:1 0 - 0.7 0.13 26 C18:2 0 - 0.73 0.29

12 C8 0 - 0.6 0.23 27 C18:1 0-7 1.57

13 C10:2 0 - 0.22 0.01 28 C18 0-4 0.47

14 C10:1 0 - 0.45 0.07 29 C18:1OH 0 - 0.1 0.01

15 C10 0 - 0.65 0.19 30 C18OH 0 - 0.1 0.01

 LABORATORY REPORT
Name : DANIEL BATISTA BRAGA Sex/Age : Male/1 Year H.ID : 231H01756 Case ID : 30102200314
Ref By : Dr. Maulik Kapadiya Dis.Loc. : Pt ID : 2497761
Bill. Loc : Genetic Diagnostic Center Pt. Loc. :
Registration Date & Time : 13-Jan-2023, 18:05 Sample Type : Dried Blood Ph # :
Sample Date & Time : 13-Jan-2023, 18:05 Sample Coll. By Spot (DBS) Ref Id : I0123015
Report Date & Time : 13-Jan-2023, 18:05 Acc. Remarks : Ref Id2 : SP-310
:

Annexure 1

DISORDERS DETECTED BY TANDEM MASS SPECTROMETRY

Metabolic Disorder: Organic acid condition
 Beta-Ketothiolase deficiency (BKT)/ Mitochondrial
acetoacetyl-CoA Thiolase deficiency
 Glutaric acidemia type I (GA1)
 Holocarboxylase synthase deficiency (MCD)/ Multiple
Co-A carboxylase deficiency
 3-Hydroxy-3-methyglutaric aciduria (HMG)/3-hydroxy-3-
methylglutaryl-CoA lyase deficiency
 Isovaleric acidemia (IVA)
 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC)
 Propionic acidemia (PROP)
 2-Methyl-3-hydroxybutyric aciduria (2M3HBA)
 2-Methylbutyrylglycinuria (2MBG)
 3-Methylglutaconic aciduria (3MGA)
 Isobutyrylglycinuria (IBG)
 Malonic acidemia (MAL)
 Methylmalonic acidemia (cobalamin disorders)
 Methylmalonic acidemia (methylmalonyl-CoA mutase)
 Methylmalonic acidemia with homocystinuria (Cbl C,D)
 Vitamin B12-responsive methylmalonic aciduria
Metabolic Disorder: Fatty acid oxidation disorder
 Carnitine uptake defect/carnitine transport defect (CUD)
 Long-chain L-3 hydroxyacyl-CoA dehydrogenase
deficiency (LCHAD)
 Medium-chain acyl-CoA dehydrogenase deficiency
(MCAD)
 Trifunctional protein deficiency (TFP)
 Very long-chain acyl-CoA dehydrogenase deficiency
(VLCAD)
 2,4 Dienoyl-CoA reductase deficiency (DE RED)
 Carnitine acylcarnitine translocase deficiency (CACT)
 Carnitine palmitoyltransferase type I deficiency (CPT IA)
 Carnitine palmitoyltransferase type II deficiency (CPT II)
 Glutaric acidemia type II (GA2)/ Multiple Acyl-CoA
dehydrogenase deficiency
 Medium-chain ketoacyl-CoA thiolase deficiency (MCAT)
 Medium/short-chain L-3-hydroxyacyl-CoA
dehydrogenase deficiency (M/SCHAD)
 Short-chain acyl-CoA dehydrogenase deficiency (SCAD)

Metabolic Disorder: Amino acid disorder Other Disorder

 Argininosuccinic aciduria (ASA)  Liver Disease
 Citrullinemia, type I (CIT)  Treatment with Benzoate, Pyvalic Acid, or Valproic Acid
 Classic phenylketonuria (PKU)  Total parenteral nutrition (TPN)/Hyperalimentation
 Homocystinuria (HCY)  Medium Chain Triglyceride Oil Administration
 Maple syrup urine disease (MSUD)  Presence of EDTA Anticoagulants in blood specimen
 Tyrosinemia, type I (TYR I)
 Argininemia (ARG)
 Benign hyperphenylalaninemia (H-PHE)
 Biopterin defect in cofactor biosynthesis (BIOPT-BS)
 Biopterin defect in cofactor regeneration (BIOPT-REG)
 Citrullinemia, type II (CIT II)
 Hypermethioninemia (MET)
 Tyrosinemia, type II (TYR II)
 Tyrosinemia, type III (TYR III)
 Transient Neonatal Tyrosinemia