UMMC Medical Genetics physicians are board certified in medical genetics and one or more subspecialties. Our metabolic team is trained in the comprehensive and complex evaluation and management of high-risk metabolic/genetic patients with birth defects, inborn errors of metabolism, and other genetic disorders with nutrition-related issues.
Couples at risk for genetic conditions in their family (such as cystic fibrosis) can undergo carrier screening before pursuing a pregnancy.
Women who have brothers with X-linked genetic conditions (such as hemophilia A, Duchenne or Becker muscular dystrophy, Fragile X syndrome) can undergo DNA carrier testing to see if they are at risk for having affected sons. (Affected male relatives should be tested first).
In collaboration with a pregnant woman's OB/GYN, we help interpret: