Chromosomal microarray analysis (CMA) provides comprehensive genetic testing for the most common chromosomal conditions as well as a large number of severe genetic conditions not detected by traditional chromosome analysis. This test explores chromosomes in detail to help detect genetic conditions that cause significant disabilities. Baylor Genetics evaluates the entire human genome for regions that contain too many or too few copies of genetic material.

The microarray is like a grid covered with thousands of tiny probes consisting of small pieces of DNA from known locations on each of the 46 chromosomes. CMA looks for imbalances of chromosomal material between DNA from a control and your patient’s DNA. When a patient’s sample and the control sample are labeled and added to the microarry, our team can determine if there are any differences in copy number, also known as gains (duplications) or losses (deletions) in specific segments of DNA. If a difference is found, the location and type of change (gain or loss) will often determine the cause of your patient’s health condition.

CMA is a first-tier diagnostic test recommended by the American College of Medical Genetics (ACMG), the American Academy of Neurology (AAN), the Child Neurology Society (CNS), the American Academy of Pediatrics (AAP), and the International Standard Cytogenomic Array (ISCA) Consortium. CMA should be considered for individuals who lack a sufficient specific history or features on physical examination to suggest a specific genetic (or non-genetic) cause for intellectual disability, developmental delay, autism spectrum disorder, or multiple congenital anomalies.