- Chromosomal microarray analysis (CMA) is a diagnostic test that can detect clinically significant large (whole chromosome) and submicroscopic (microdeletion/microduplication) copy number changes throughout the genome. Chromosomal microarray analysis is the gold standard for the detection of large deletions and duplications along the whole genome.The higher the resolution and the K value of the test, the higher the sensitivity.
WES INDEX – Whole Exome Sequencing Index
Whole exome sequencing (WES) is a technique for sequencing all the protein-coding genes in a genome.
