SAMPLE REPORTCity Hospital
123 City Avenue
Anywhere, ST 12345
LCLS Specimen Number:
Patient Name:
Date of Birth:
Gender:Patient ID:
Lab Number:
Indications:123-456-7891-0
Doe, John
00/00/2006
MAutism

Test: Chromosome Microarray
Genotyping Targets: 2695000

Account Number: 12345678
Ordering Physician: Ordering Doctor, MD
Specimen Type: BLOOD
Date Collected: 02/01/2012
Date Received: 02/02/2012
CoPath Number:
Client Reference:
Date Reported: 02/11/2012
Array Type: SNPMICROARRAY RESULT: NORMAL MALE
INTERPRETATION:
arr(1-22)x2,(XY)x1
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 indicatedbelow. Archival records can be re-examined on request as new clinicallysignificant genes are identified.
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 extracted from lymphocytes
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:* DNA copy gain/loss within a known clinically significant gene region of 50 Kb or greater.
* DNA copy number loss of >200 kb or gain >500 kb outside known clinically significant regions with at least one OMIM
annotated gene or within a region of clear clinical significance.
* UPD testing is recommended for patient results demonstrating a long contiguous region of homozygosity 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 contiguous short runs (associated with a geographically or sociallylimited gene pool) is reported at the 99th percentile.
Truly balanced chromosome alterations will not be detected by this analysis. The threshold for mosaicism is variable,depending on the size of segment. Empiric studies have detected whole chromosome 22 mosaicism below 10.0%. CNVs citedin the Database of Genomic Variants are not reported.
This test was developed and its performance characteristics determined by Laboratory Corporation of America Holdings(LabCorp). It has not been cleared or approved by the Food and Drug Administration (FDA). The FDA has determined thatsuch clearance or approval is not necessary.

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SAMPLE REPORTCity Hospital
123 City Avenue
Anywhere, ST 12345
LCLS Specimen Number:
Patient Name:
Date of Birth:
Gender:Patient ID:
Lab Number:
Indications:123-456-7891-0
Doe, John
00/00/2006
M

Autism

Account Number: 12345678
Ordering Physician: Ordering Doctor, MD
Specimen Type: BLOOD
Date Collected: 02/01/2012
Date Received: 02/02/2012
CoPath Number:
Client Reference:__________________________________________________

Board Certified Cytogeneticist
Test Site: LabCorp
1904 Alexander Drive, RTP, NC 27709-0153 (800) 533-0567

This document contains private and confidential health information protected by state and federal law.

Reveal® is a registered service mark of Esoterix Genetic Laboratories, LLC.
Integrated Genetics is a business unit of Esoterix Genetic Laboratories, LLC,
a wholly-owned subsidiary of Laboratory Corporation of America Holdings.
©2012 Laboratory Corporation of America® Holdings. All rights reserved.
rep-466-v1-0712

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