In 2010 the American College of Medical Genetics recommended CMA as a 1st tier genetic test for individuals with unexplained developmental delay, intellectual delay, autism spectrum disorder, and multiple congenital anomalies including dysmorphic facial features.
CMAs capture DNA from an oral cheek (buccal) swab, which allows this process to be easy and painless. A CMA is able to detect:
- Abnormalities of chromosome numbers (i.e. trisomy and monosomy conditions, including Down syndrome, 47,XXY or 47,XYY)
- Microdeletions and microduplications in chromosomal segments—sometimes referred to as copy number variance (CNV)
- Chromosomal rearrangements (translocations)
- Some CMAs may additionally detect excessive homozygosity (the risk of imprinting or recessive disorders), and tetraploidy conditions, such as 48,XXXX.
This non-invasive clinical test provides high volume DNA analysis with the highest yield detection rate of any single genetic test currently available.
Identification of a chromosomal abnormality may serve to inform reproductive planning, as well as guide intervention programs for profiles associated with known copy number variances.
*CMA is not able to detect point mutations, Fragile X syndrome, or balanced chromosomal rearrangements (i.e. inversions).
View ACMG Guideline PDF