Chromosomal Microarray Analysis

Chromosomal microarray analysis evaluates genomic copy-number variation across many regions of the genome. It can identify deletions and duplications that are too small to be detected by routine karyotyping.

Depending on the platform, microarrays may also provide information about regions of homozygosity or patterns associated with uniparental disomy. However, conventional copy-number microarrays generally do not detect balanced chromosomal rearrangements reliably and may not identify low-level mosaicism.