What can CMA detect in genetic analysis?

CMA, or Chromosomal Microarray Analysis, is a powerful genetic testing technology that is particularly effective in detecting genomic imbalances at a high resolution. This method primarily identifies small deletions and duplications (copy number variations) that may not be visible with standard karyotyping.

The ability of CMA to reveal these small-scale genetic alterations is significant because they can be associated with various developmental disorders and congenital anomalies. Unlike traditional methods that may only detect larger chromosomal abnormalities, CMA has the resolution needed to pinpoint these more subtle changes.

Balanced translocations and sequence variants, while potentially important in certain diagnostic contexts, are not typically detectable through CMA. Instead, CMA's strength lies in its capacity to uncover disruptions in genomic dosage, which are often implicated in clinical manifestations of genetic disorders.