Chromosomal Microarray Analysis
Patients with intellectual disability (ID) (a.k.a. mental retardation (MR)), multiple congenital anomalies (MCA), and/or autism spectrum disorders (ASD) are often difficult to diagnose with a known syndrome. Such features can be caused by a wide variety of chromosomal losses or gains which are often not described in terms of a specific syndrome. Affected patients, most often children, may have structural chromosome aberrations which can only be detected with chromosomal microarray analysis (CMA).
CMA is a method used to detect genomic copy number abnormalities as small as approximately 10 kilobases (Kb), providing detailed information as to which genes are affected by deletions or duplications. Next, what is known about these genes can be assessed in the context of the patient’s phenotype to determine the likelihood of a causal relationship between the detected structural aberration and the patient’s phenotype.
MGZ offers the CMA format CytoSNP 850K, with coverage of 3,262 disease-relevant genes. SNP microarrays (CytoSNP 850K, Illumina) also detect loss of heterozygosity (LOH) and low-level mosaicism.
We perform prenatal CMA on amniotic fetal cells or chorionic villi. We also perform CMA on products of conception and postnatally on peripheral blood.
If you are interested in requesting CMA, please refer to the information about requesting a test, specimen requirements, shipping, cost, and billing via the Quick Links to the right.