Cytogenomic SNP Microarray

Casandra

Casandra Test Code AR85908Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 2003414CPT Code 81229

Cytogenomic SNP Microarray

Also known as: CMA SNP

Clinical Use

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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

For New York State clients, samples will be forwarded to a New York state-approved laboratory. It is essential to submit a Genomic Microarray Patient History Form and obtain informed consent for genetic testing, particularly for patients from New York. The test must be ordered using a Cytogenetic test request form 43097 or through the ARUP interface.

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.

Test Details