Chromosomal Microarray

Chromosomal Microarray (CMA) is a first tier diagnostic test recommended by the American College of Medical Genetics (ACMG) for patients with diagnoses including unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and multiple congenital anomalies (MCA).

Advantages

Detects aneuploidy (including trisomy and sex chromosome abnormalities) & triploidy Identifies sub-microscopic deletions and duplications in regions known to be associa ted with well-characterized microdeletion & microduplication syndromes Pr ovides enriched c o verage of subtelomeric regions, often undetectable by traditional chromosome analysis More comprehensive and cost-effective than individual FISH tests Circum vents cell culture in most cases with more efficient turnaround times. Often allows for results on suboptimal specimens for which chromosome analysis is not feasible, SNP array allows detection of Triploidy, Uniparental disomy & LOH.

Limitation

The minimum resolution required for the reporting of Microarray RapidSure Optima (315K) is 1 MB for losses, 2 MB for gains, and 5 MB for LOH / AOH for Microarray RapidSure Optima (315K).

Advantages

Detects aneuploidy (including trisomy and sex chromosome abnormalities) & triploidy Identifies sub-microscopic deletions and duplications in regions known to be associa ted with well-characterized microdeletion & microduplication syndromes Pr ovides enriched c o verage of subtelomeric regions, often undetectable by traditional chromosome analysis More comprehensive and cost-effective than individual FISH tests Circum vents cell culture in most cases with more efficient turnaround times. Often allows for results on suboptimal specimens for which chromosome analysis is not feasible, SNP array allows detection of Triploidy, Uniparental disomy & LOH.

Limitation

The minimum resolution required for the reporting of Microarray RapidSure Deepdive (750K) is 200 KB for losses, 200 KB for gains, and 5 MB for LOH / AOH for Microarray RapidSure Deepdive (750K).

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Accreditations

CLIA No. 34D2205781