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The CytoScan HT-CMA assay enables cytogenetic researchers to detect and analyze relevant chromosomal aberrations with confidence. The assay provides high-resolution coverage of OMIM and DECIPHER genes, along with high-density SNP coverage for loss of heterozygosity (LOH) and UPD detection. The CytoScan HT-CMA assay also includes up to 178 relevant single nucleotide variants (SNV) and content for analysis of SMN1, which allows for consolidation of testing.