Chromosomal Microarray Analysis - HR + SNP Screen (Comprehensive)

Clinical Use

Use

Comprehensive Chromosomal Microarray Analysis (CMA-Comprehensive) combines CMA-HR and CMA-SNP into one array, using a 400k custom designed microarray that targets over 5,000 genes at the exon level. It includes 60,000 probes for SNP analysis to detect uniparental disomy (UPD) and absence of heterozygosity (AOH). This test is indicated for patients with dysmorphic features, multiple congenital anomalies, intellectual disability, developmental delay, and/or autism spectrum disorder. It can also be beneficial for those with prior unsuccessful genetic tests.

Special Instructions

Patients should provide a detailed medical history and result inquiries can follow up with the laboratory directly. Collection of specimens must comply with specific protocols to ensure sample integrity, including shipping requirements. Ordering healthcare professionals must ensure they follow all guidelines and utilize required kits appropriately. Prepare samples for overnight shipping at room temperature, avoiding extremes in temperature during transport. Use insulated containers and ensure samples arrive no later than 72 hours post-collection. For any clarifications on specimen handling, consult laboratory resources provided.

Limitations

CMA is limited to the detection of genomic material gain or loss and will not identify low-level mosaicism, balanced translocations, inversions, or point mutations that could affect clinical outcomes. It has been validated primarily on previously characterized samples with known deletions and duplications.

Test Details

New York Approved