Synonym: CMA

Term that refers to methods used to detect copy number variants (losses or gains of chromosome material), which may be benign, pathogenic, or of uncertain clinical significance. A far more sensitive method than traditional karyotyping, CMA detects both large and small copy number variants. Depending on the method used, CMA may involve scanning of the whole genome (also referred to as cytogenomic CMA), targeted regions of the genome, or a specific chromosome or chromosome segment. The CMA methods used most commonly in clinical practice include oligo (oligonucleotide) array, SNP (single-nucleotide polymorphism) array, and oligo/SNP combination array.

Related terms: comparative genomic hybridization; copy number variant; SNP array