microarray analysis
High-resolution genetic testing method that detects submicroscopic chromosomal deletions and duplications not visible on standard karyotype analysis.
Full Definition
Chromosomal microarray analysis (CMA) is a molecular cytogenetic technique that can detect copy number variations (CNVs), including deletions and duplications, across the entire genome with much higher resolution than conventional karyotyping. The test uses DNA probes to identify imbalances in chromosomal material and can detect clinically significant changes as small as 25-50 kilobases. In reproductive genetics, CMA is used for prenatal diagnosis, evaluation of developmental delays, and investigation of recurrent pregnancy loss when standard karyotype analysis is normal.
Usage
Usage note: Often abbreviated as 'CMA'; specify 'chromosomal' when context requires clarification from other microarray types.
In Context
- "Microarray analysis detected a 1.2 Mb deletion on chromosome 22q11.2 consistent with DiGeorge syndrome." — Prenatal diagnosis report
- "The fetal karyotype was normal, but microarray analysis revealed a pathogenic duplication." — Laboratory results