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Test Code CGSNPB CYTOGENOMIC SNP ARRAY, PERIPHERAL BLOOD

Important Note

Please tube specimen to J-601 (Tube station #461)

Specimen and Container/Tube

Whole peripheral blood in one EDTA (purple top) tube and one NaHp (green top) tube

Specimen Handling and Transport Instructions

Keep at room temperature and deliver within 24 hours.  Specimen can be tubed to J-601 (tube station #461). 

Rejection Criteria

>48 hours old, incorrect anticoagulant, clotted,hemolyzed

Reference Values

Interpretative Report

Critical Values

N/A

Turnaround Time

N/A

CPT Codes

81229

LOINC Codes

N/A

Volume

1-3mL of peripheral blood in both the EDTA tube and NaHp tube

Collection Instructions

Whole blood collected in the following tubes: 1-3ml in an EDTA (purple top) tube and 1-3ml of blood in a NaHp (green top) tube.  Keep at room temperature and tube to lab within 24 hours. 

Additional Information

SNP Array Test Limitations:  Will not detect balanced translocations, low level mosaicism,
some instances of uiparental disomy, point mutations and small insertion/deletions.

Container/Tube

Green (Sodium Heparin) Tube

Special Instructions

Keep at room temperature and deliver within 24 hours. Call
laboratory at 2-6203 for sample pick up.

Reject Due To

Whole blood/unspun samples greater than 6 hours will be
rejected.

Clinical Indications

Indication for testing include: Individuals with developmental delay/intellectual disability (with or without dysmorphic
features), multiple congenital anomalies, autism spectrum disorder/pervasive developmental disorder, epilepsy/seizures, heart defects, family history of a chromosomal abnormality resulting in a genomic imbalance.

Test Components

This array includes 2.67 million markers for copy number (CN) analysis including approximately 750,000 SNP probes, and 1.9 million non-polymorphic probes for whole genome coverage.

Methodology

SNP Microarray

Synonyms/Key Search Words

Microarray, SNP, gen hyb, ACGH, Gene, Whole Gene, CGH