Cytogenomic SNP Microarray
Also known as: CMA SNP
Use
The Cytogenomic SNP Microarray is preferred as a first-tier test for the diagnosis of developmental delay, multiple congenital anomalies, and autism spectrum disorders. This genomic microarray test identifies DNA copy number variations including gains, losses, and regions of homozygosity that may contribute to or cause these disorders. The methodology used can detect pathogenic CNVs, which include duplications and deletions known to be associated with clinical conditions such as the 22q11.2 deletion syndrome, also known as DiGeorge syndrome.
Special Instructions
Not provided.
Limitations
This assay cannot detect genomic rearrangements larger than its resolution allows, nor can it identify sequence-level variants like indels or point mutations. It is also unable to detect balanced chromosomal rearrangements and has limited sensitivity for low-level mosaicism. Additional testing such as FISH may be recommended in some cases to identify structural variants. Rare, clinically insignificant CNVs or benign polymorphisms may not be reported if they fall outside size or content-specific criteria.
Methodology
Microarray
Biomarkers
Unknown CNV
Copy Number Region
LOINC Codes
- 62375-1 - Microarray platform
Result Turnaround Time
10-14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
1 mL
Container
green (sodium heparin) or lavender (K2EDTA)
Collection Instructions
Collect peripheral blood in green (sodium heparin) or lavender (K2EDTA) tube.
Storage Instructions
Ambient: 48 hours; Refrigerated: 72 hours; Frozen: Unacceptable
Causes for Rejection
Clotted specimens, frozen
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
| Refrigerated | 72 hours |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant