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.
Services we offer
- Evaluation and treatment of genetic lipid disorders (e.g., familial hypercholesterolemia)
- Evaluation and treatment of hemochromatosis
- Evaluation of families with a high incidence of unusual cancer/s (e.g., retinoblastoma, von Hippel-Lindau syndrome, multiple endocrine neoplasias)
- Hereditary cancer syndrome counseling and pre-symptomatic testing (e.g., breast, ovarian, colon cancer)
- Hereditary neurodegenerative conditions counseling and pre-symptomatic testing (e.g., Huntington's disease, hereditary ataxias)
- Inherited cardiac conditions (e.g., long-QT syndrome, dilated cardiomyopathy)
- Inherited renal diseases (e.g., adult polycystic kidney disease)
- Management and coordination of care for adults with genetic conditions
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:
- Abnormal maternal serum biochemical screens
- Fetal ultrasound abnormalities
- Fetal chromosome abnormalities detected on amniocentesis or chorionic villus sampling
- Infertility, recurrent miscarriage
- Stillbirth/fetal demise pathology reviews