Chromosomal microarray analysis, Familial Variant can be used to:
This test only analyzes the region of the specified CNV. No other regions of the genome are evaluated. A copy of the prior test results must be provided.
Neoplasia chromosomal microarray analysis (CMA), is increasingly relevant in establishing a diagnosis and prognosis for people with cancer (e.g. Gunnarsson, et al. 2008). With a single test, CMA detects chromosome deletions, chromosome duplications and amplifications, and copy neutral loss of heterozygosity (LOH) across the entire genome.
Chromosomal microarray analysis is not recommended as a test method for post therapy follow-up or for minimal residual disease detection.
Chromosomal microarray analysis (CMA) can be used to diagnose genetic syndromes caused by chromosome deletions, chromosome duplications, or uniparental disomy (UPD). Examples include Down syndrome, DiGeorge syndrome, velocardiofacial syndrome, Williams syndrome, Prader-Willi syndrome, and unbalanced translocations.
It is typically the best diagnostic genetic test to begin with when:
Ordering providers can choose whether or not variants of uncertain clinical significance are reported. The latter may be most useful for prenatal testing when ultrasound has been normal and the chance of a genetic abnormality is low. Wapner, et al. 2012 found that CMA revealed more clinically relevant chromosome deletions and duplications than did standard karyotyping, even when the reason for pursuing testing was maternal age or abnormal serum screening results.
Sample Reports