LabCorp RTP

LabCorp
Laboratory Corporation of America
1912 TW Alexander Drive
RTP, NC 27709−0150 Phone: 800−735−4087
Specimen Number Patient ID Control Number Account Number Account Phone Number Route
257−225−9003−0 90000999 336−436−8645 00
Patient Last Name Account Address
SAMPLE REPORT LabCorp Test Master
Patient First Name Patient Middle Name
052104 Test Account
Patient SS# Patient Phone Total Volume 3060 South Church Street
Burlington NC 27215
Age (Y/M/D) Date of Birth Sex Fasting
31/03/01 06/12/85 F
Patient Address Additional Information
NORMAL REPORT

Date and Time Collected Date Entered Date and Time Reported Physician Name NPI Physician ID
09/13/16 00:00 09/13/16
Tests Ordered
Chromosome Amnio RFX CMA; Chromosome Amniotic Fluid; Additional Cells Counted; Chrom Analy Add
Karyot 88280X1; Chrom Analy 6−12 colonies,1 Ka
TESTS RESULT FLAG UNITS REFERENCE INTERVAL LAB
Chromosome Amnio RFX CMA
Cells Counted 15 01
Colonies 15 01
Cells Analyzed 15 01
Cells Karyotyped 2 01
GTG Band Resolution Achieved 450 01
Cytogenetic Diagnosis Comment: 01
46,XX
Cytogenetic Interpretation Comment: 01
NORMAL FEMALE KARYOTYPE

Cytogenetic analysis of cultured amniocytes has revealed

a FEMALE karyotype with an apparently normal GTG banding
pattern in all in−situ colonies or subcultured metaphases
analyzed.

This result does not exclude the possibility of subtle

rearrangements below the resolution of cytogenetics or
congenital anomalies due to other etiologies.

Specimen Type Comment: 01

AMNIOTIC FLUID
Director Review: Comment: 01
Inder K. Gadi, PhD, FACMG
Reflex 01
Microarray analysis is indicated for this specimen. Final report will
follow under separate cover.
Chromosome Microarray Comment: 01
Inder K. Gadi, PhD, FACMG
Specimen Type Comment: 01
AMNIOTIC FLUID
# of Genotyping Targets Comment: 01
2695000

SAMPLE REPORT, 052104 257−225−9003−0 Seq # 0000

10/04/16 12:15 ET DUPLICATE FINAL REPORT Page 1 of 3

This document contains private and confidential health information protected by state and federal law. ©2004−16 Laboratory Corporation of America ® Holdings
If you have received this document in error, please call 508−898−9001 All Rights Reserved
DOC1 Ver: 1.49
 LabCorp RTP
LabCorp
Laboratory Corporation of America
1912 TW Alexander Drive
RTP, NC 27709−0150 Phone: 800−735−4087
Patient Name Specimen Number
SAMPLE REPORT, 052104 257−225−9003−0
Account Number Patient ID Control Number Date and Time Collected Date Reported Sex Age(Y/M/D) Date of Birth
90000999 09/13/16 00:00 F 31/03/01 06/12/85
TESTS RESULT FLAG UNITS REFERENCE INTERVAL LAB
Array Type SNP 01
Diagnosis Comment: 01
NORMAL FEMALE
Interpretation Comment: 01

arr(1−22,X)x2

The whole genome chromosome SNP microarray (Reveal)

analysis was normal. No significant DNA copy number changes
or copy neutral regions within the 2.695 million region
specific SNP and structural targets were detected under the
present reporting criteria indicated below.

Maternal cell contamination studies will be reported

under separate cover, if ordered.

Methodology:
SNP microarray analysis was performed using the Affymetrix
Cytoscan HD platform which uses over 743,000 SNP probes and
1,953,000 NPCN probes with a median spacing of 0.88 kb.
250ng of total genomic DNA was digested with NspI and then
ligated to NspI adaptors, respectively, and amplified using
Titanium Taq with a GeneAmp PCR System 9700. PCR products
were purified using AMPure beads and quantified using
NanoDrop 8000. Purified DNA was fragmented and biotin
labeled and hybridized to the Affymetrix Cytoscan HD
GeneChip. Data was analyzed using Chromosome Analysis Suite.
The analysis is based on the GRCh37/hg19 assembly.

Positive evaluation criteria include:

* Copy numbers gains >2Mb and losses >1Mb, including
at least one OMIM annotated gene are reported in this
analysis.
* Gains/losses of >50 Kb within clinically significant
genes or regions. On request, candidate genes can be
analyzed at a much lower threshold, depending on the gene
specific marker density.
* UPD testing is recommended for patient results
demonstrating a long contiguous region of homozygosity (ROH)
in a single chromosome of >20 Mb interstitially or >10
Mb telomerically (15 and 8 Mb, respectively, for imprinted
chromosomes).
* Contiguous homozygosity of >8 Mb within multiple
chromosomes suggests common descent. These regions of
potential recessive allele risk are designated.
* A high level of allele homozygosity due to numerous short

SAMPLE REPORT, 052104 257−225−9003−0 Seq # 0000

10/04/16 12:15 ET DUPLICATE FINAL REPORT Page 2 of 3

This document contains private and confidential health information protected by state and federal law. ©2004−16 Laboratory Corporation of America ® Holdings
If you have received this document in error, please call 508−898−9001 All Rights Reserved
DOC1 Ver: 1.49
 LabCorp RTP
LabCorp
Laboratory Corporation of America
1912 TW Alexander Drive
RTP, NC 27709−0150 Phone: 800−735−4087
Patient Name Specimen Number
SAMPLE REPORT, 052104 257−225−9003−0
Account Number Patient ID Control Number Date and Time Collected Date Reported Sex Age(Y/M/D) Date of Birth
90000999 09/13/16 00:00 F 31/03/01 06/12/85
TESTS RESULT FLAG UNITS REFERENCE INTERVAL LAB
ROH (associated with a geographically or socially limited
gene pool) is reported at the 99th percentile.
*Triploid DNA that normalizes to 2 copies in standard CGH
array analysis, are detectable in this allele specific
microarray by 2:1 allele dosage ratios generated within each
chromosome.
Truly balanced chromosome alterations will not be
detected by this analysis, although cryptic imbalances
associated with some translocations are readily detected due
to the dense whole genome probe coverage. The threshold for
mosaicism is variable, depending on the size of segment.
Empiric studies have detected whole chromosome 22 mosaicism
below 10.0%. CNVs cited in the Database of Genomic Variants
are not reported.

Director Review Comment: 01

Inder K. Gadi, PhD, FACMG
SPACE
01 YU
LabCorp RTP Dir: Arundhati Chatterjee, MD
1904 TW Alexander Drive Suite C, RTP, NC 27709−0153
For inquiries, the physician may contact Branch: 800−222−7566 Lab: 800−735−4087

SAMPLE REPORT, 052104 257−225−9003−0 Seq # 0000

10/04/16 12:15 ET DUPLICATE FINAL REPORT Page 3 of 3

This document contains private and confidential health information protected by state and federal law. ©2004−16 Laboratory Corporation of America ® Holdings
If you have received this document in error, please call 508−898−9001 All Rights Reserved
DOC1 Ver: 1.49
 Client/Sending Facility:
LabCorp Test Master
Test Account
3060 South Church Street
Burlington, NC 27215
Ph: (336)436-8645
POE-00

LCLS Specimen Number: 257-225-9003-0 Account Number: 90000999

Patient Name: SAMPLE REPORT, 052104 Ordering Physician:
Date of Birth: 06/12/1985 Specimen Type: AMNIOTIC FLUID
Gender: F Client Reference:
Patient ID: Date Collected: 09/13/2016
Lab Number: YU16-73623 A Date Received: 09/16/2016

Indications: Date Reported: 09/16/2016

Test: Chromosome Amnio RFX CMA

Cells Counted: 15 Cells Karyotyped: 2

Colonies Counted: 15 Band Resolution: 450
Cells Analyzed: 15

CYTOGENETIC RESULT: 46,XX

INTERPRETATION: NORMAL FEMALE KARYOTYPE

Cytogenetic analysis of cultured amniocytes has revealed a FEMALE

karyotype with an apparently normal GTG banding pattern in all in-situ
colonies or subcultured metaphases analyzed.

This result does not exclude the possibility of subtle

rearrangements below the resolution of cytogenetics or congenital
anomalies due to other etiologies.

__________________________________________________
Inder K. Gadi, PhD, FACMG Arundhati Chatterjee, MD
Board Certified Cytogeneticist Medical Director
Peter Papenhausen, PhD
Technical component performed by Laboratory Corporation of America Holdings, National Director of Cytogenetics
1904 TW Alexander Drive , RTP , NC , 27709-0153 (800) 345-4363
Professional Component performed by LabCorp CLIA 34D1008914, 1904 TW Alexander Dr, Research Triangle Park, NC 27709. Medical Director, Arundhati Chatterjee, MD.
Integrated Genetics is a brand used by Esoterix Genetic Laboratories, LLC, a wholly-owned subsidiary of Laboratory Corporation of America Holdings.
This document contains private and confidential health information protected by state and federal law.

Page 1 of 1
 LabCorp RTP
LabCorp
Laboratory Corporation of America
1912 TW Alexander Drive
RTP, NC 27709−0150 Phone: 800−735−4087
Specimen Number Patient ID Control Number Account Number Account Phone Number Route
257−225−9004−0 90000999 336−436−8645 00
Patient Last Name Account Address
SAMPLE REPORT LabCorp Test Master
Patient First Name Patient Middle Name
052104 Test Account
Patient SS# Patient Phone Total Volume 3060 South Church Street
Burlington NC 27215
Age (Y/M/D) Date of Birth Sex Fasting
31/03/01 06/12/85 F
Patient Address Additional Information
ABNORMAL REPORT

Date and Time Collected Date Entered Date and Time Reported Physician Name NPI Physician ID
09/13/16 00:00 09/13/16
Tests Ordered
Chromosome Amnio RFX CMA; Additional Cells Counted; Chromosome Amniotic Fluid; Chrom Analy Add
Karyot 88280X1; Chrom Analy 6−12 colonies,1 Ka
TESTS RESULT FLAG UNITS REFERENCE INTERVAL LAB
Chromosome Amnio RFX CMA
Cells Counted 15 01
Colonies 15 01
Cells Analyzed 15 01
Cells Karyotyped 2 01
GTG Band Resolution Achieved 450 01
Cytogenetic Diagnosis Comment: 01
46,XX
Cytogenetic Interpretation Comment: 01
NORMAL FEMALE KARYOTYPE

Cytogenetic analysis of cultured amniocytes has revealed

a FEMALE karyotype with an apparently normal GTG banding
pattern in all in−situ colonies or subcultured metaphases
analyzed.

This result does not exclude the possibility of subtle

rearrangements below the resolution of cytogenetics or
congenital anomalies due to other etiologies.

Specimen Type Comment: 01

AMNIOTIC FLUID
Director Review: Comment: 01
Inder K. Gadi, PhD, FACMG
Reflex 01
Microarray analysis is indicated for this specimen. Final report will
follow under separate cover.
Chromosome Microarray Comment: 01
Inder K. Gadi, PhD, FACMG
Specimen Type Comment: 01
AMNIOTIC FLUID
# of Genotyping Targets Comment: 01
2695000

SAMPLE REPORT, 052104 257−225−9004−0 Seq # 0000

10/04/16 12:15 ET DUPLICATE FINAL REPORT Page 1 of 3

This document contains private and confidential health information protected by state and federal law. ©2004−16 Laboratory Corporation of America ® Holdings
If you have received this document in error, please call 508−898−9001 All Rights Reserved
DOC1 Ver: 1.49
 LabCorp RTP
LabCorp
Laboratory Corporation of America
1912 TW Alexander Drive
RTP, NC 27709−0150 Phone: 800−735−4087
Patient Name Specimen Number
SAMPLE REPORT, 052104 257−225−9004−0
Account Number Patient ID Control Number Date and Time Collected Date Reported Sex Age(Y/M/D) Date of Birth
90000999 09/13/16 00:00 F 31/03/01 06/12/85
TESTS RESULT FLAG UNITS REFERENCE INTERVAL LAB
Array Type SNP 01
Diagnosis Comment: 01
NORMAL FEMALE
Interpretation Comment: 01

arr(1−22,X)x2

The whole genome chromosome SNP microarray (Reveal)

analysis was normal. No significant DNA copy number changes
or copy neutral regions within the 2.695 million region
specific SNP and structural targets were detected under the
present reporting criteria indicated below.

Maternal cell contamination studies will be reported

under separate cover, if ordered.

Methodology:
SNP microarray analysis was performed using the Affymetrix
Cytoscan HD platform which uses over 743,000 SNP probes and
1,953,000 NPCN probes with a median spacing of 0.88 kb.
250ng of total genomic DNA was digested with NspI and then
ligated to NspI adaptors, respectively, and amplified using
Titanium Taq with a GeneAmp PCR System 9700. PCR products
were purified using AMPure beads and quantified using
NanoDrop 8000. Purified DNA was fragmented and biotin
labeled and hybridized to the Affymetrix Cytoscan HD
GeneChip. Data was analyzed using Chromosome Analysis Suite.
The analysis is based on the GRCh37/hg19 assembly.

Positive evaluation criteria include:

* Copy numbers gains >2Mb and losses >1Mb, including
at least one OMIM annotated gene are reported in this
analysis.
* Gains/losses of >50 Kb within clinically significant
genes or regions. On request, candidate genes can be
analyzed at a much lower threshold, depending on the gene
specific marker density.
* UPD testing is recommended for patient results
demonstrating a long contiguous region of homozygosity (ROH)
in a single chromosome of >20 Mb interstitially or >10
Mb telomerically (15 and 8 Mb, respectively, for imprinted
chromosomes).
* Contiguous homozygosity of >8 Mb within multiple
chromosomes suggests common descent. These regions of
potential recessive allele risk are designated.
* A high level of allele homozygosity due to numerous short

SAMPLE REPORT, 052104 257−225−9004−0 Seq # 0000

10/04/16 12:15 ET DUPLICATE FINAL REPORT Page 2 of 3

This document contains private and confidential health information protected by state and federal law. ©2004−16 Laboratory Corporation of America ® Holdings
If you have received this document in error, please call 508−898−9001 All Rights Reserved
DOC1 Ver: 1.49
 LabCorp RTP
LabCorp
Laboratory Corporation of America
1912 TW Alexander Drive
RTP, NC 27709−0150 Phone: 800−735−4087
Patient Name Specimen Number
SAMPLE REPORT, 052104 257−225−9004−0
Account Number Patient ID Control Number Date and Time Collected Date Reported Sex Age(Y/M/D) Date of Birth
90000999 09/13/16 00:00 F 31/03/01 06/12/85
TESTS RESULT FLAG UNITS REFERENCE INTERVAL LAB
ROH (associated with a geographically or socially limited
gene pool) is reported at the 99th percentile.
*Triploid DNA that normalizes to 2 copies in standard CGH
array analysis, are detectable in this allele specific
microarray by 2:1 allele dosage ratios generated within each
chromosome.
Truly balanced chromosome alterations will not be
detected by this analysis, although cryptic imbalances
associated with some translocations are readily detected due
to the dense whole genome probe coverage. The threshold for
mosaicism is variable, depending on the size of segment.
Empiric studies have detected whole chromosome 22 mosaicism
below 10.0%. CNVs cited in the Database of Genomic Variants
are not reported.

Director Review Comment: 01

Inder K. Gadi, PhD, FACMG
SPACE
01 YU
LabCorp RTP Dir: Arundhati Chatterjee, MD
1904 TW Alexander Drive Suite C, RTP, NC 27709−0153
For inquiries, the physician may contact Branch: 800−222−7566 Lab: 800−735−4087

SAMPLE REPORT, 052104 257−225−9004−0 Seq # 0000

10/04/16 12:15 ET DUPLICATE FINAL REPORT Page 3 of 3

This document contains private and confidential health information protected by state and federal law. ©2004−16 Laboratory Corporation of America ® Holdings
If you have received this document in error, please call 508−898−9001 All Rights Reserved
DOC1 Ver: 1.49
 Client/Sending Facility:
LabCorp Test Master
Test Account
3060 South Church Street
Burlington, NC 27215
Ph: (336)436-8645
POE-00

LCLS Specimen Number: 257-225-9004-0 Account Number: 90000999

Patient Name: SAMPLE REPORT, 052104 Ordering Physician:
Date of Birth: 06/12/1985 Specimen Type: AMNIOTIC FLUID
Gender: F Client Reference:
Patient ID: Date Collected: 09/13/2016
Lab Number: YU16-73624 A Date Received: 09/16/2016

Indications: Date Reported: 09/16/2016

Test: Chromosome Amnio RFX CMA

Cells Counted: 15 Cells Karyotyped: 2

Colonies Counted: 15 Band Resolution: 450
Cells Analyzed: 15

CYTOGENETIC RESULT: 46,XX

INTERPRETATION: NORMAL FEMALE KARYOTYPE

Cytogenetic analysis of cultured amniocytes has revealed a FEMALE

karyotype with an apparently normal GTG banding pattern in all in-situ
colonies or subcultured metaphases analyzed.

This result does not exclude the possibility of subtle

rearrangements below the resolution of cytogenetics or congenital
anomalies due to other etiologies.

__________________________________________________
Inder K. Gadi, PhD, FACMG Arundhati Chatterjee, MD
Board Certified Cytogeneticist Medical Director
Peter Papenhausen, PhD
Technical component performed by Laboratory Corporation of America Holdings, National Director of Cytogenetics
1904 TW Alexander Drive , RTP , NC , 27709-0153 (800) 345-4363
Professional Component performed by LabCorp CLIA 34D1008914, 1904 TW Alexander Dr, Research Triangle Park, NC 27709. Medical Director, Arundhati Chatterjee, MD.
Integrated Genetics is a brand used by Esoterix Genetic Laboratories, LLC, a wholly-owned subsidiary of Laboratory Corporation of America Holdings.
This document contains private and confidential health information protected by state and federal law.

Page 1 of 1