Chromosomal Microarray

Whole-genome chromosomal microarray (CMA) is performed using the Affymetrix CytoScan HD array platform. CytoScan HD is a high-resolution CMA platform containing over 750,000 SNP probes and 1,950,000 non-polymorphic probes with a median spacing of 0.88 kb across the genome.

The copy number probes enable detection of chromosomal aneuploidies and intrachromosomal deletions and duplications. The SNP probe genotyping allows detection of large blocks of homozygosity, which may represent uniparental disomy (UPD), or regions of genome identical by descent (IBD).

CMA is recommended as a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. The technology has greater than 99% sensitivity and can reliably detect 25-50 kb copy number changes across the genome at high specificity. CMA ensures that novel findings can be recorded for future discoveries that may be missed by targeted designs.

CPT Code: 81229
Turn-Around Time: 6 weeks