Genetics Program

Your genetic tests

Below is a list of commonly ordered genetic tests. Not everyone will have genetic testing ordered at their visit. Also, the team member may not order all of the tests below. The team member you see will base their decision to order tests and what tests to order on the history obtained and/or the physical examination performed at your visit.

• Biochemical Genetic Testing
• Karyotype, Extended Banding, Fluorescent In Situ Hybridization (FISH)
• Chromosomal Microarray Analysis (CMA)
• Studies for Single Gene Defects
• Trinucleotide Repeats: Fragile X Syndrome

For information about other tests that might be ordered or a particular genetic disorder, please see the list of Related Topics on the home page of the Genetics Program website.

Chromosomal Microarray Analysis (CMA)

Chromosomal Microarray Analysis (CMA) is a new genetic test that can detect disorders usually picked up by chromosome analysis (karyotype) and disorders that cannot be picked up on a karyotype (including many single gene disorders). It may be ordered for any patient with unexplained mental retardation or developmental delay, unusual physical characteristics, multiple congenital anomalies, or possible gene deletion or duplication.

CMA is usually done from a blood sample, although prenatal CMA is available by performing a CVS or amniocentesis. In some cases, blood from both parents may be requested to better interpret a child's results. Because the CMA is a relatively new and sensitive test, it is possible that a genetic abnormality for which little information is available will be detected.