Medical genetics care provided by University of Mississippi Medical Center specialists offers comprehensive evaluation and treatment for known or suspected inherited disorders.
Clinical services are provided for pediatric and adult patients as well as prenatal counseling for pregnant patients. Counseling (before symptoms appear) and testing services for inherited mutations in healthy persons are also available (such as Huntington's disease, hereditary breast/ovarian cancer susceptibility and hereditary colon cancer susceptibility). A full range of cytogenetic, biochemical and molecular testing is available.
Our 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.
In cooperation with other UMMC specialists, we coordinate or participate in clinics devoted to certain complicated conditions, including, but not limited to:
- Cleft lip/palate and craniofacial abnormalities.
- Congenital deafness.
- Developmental delay.
- Inherited renal diseases (e.g., polycystic kidney disease, Alport syndrome and Finnish nephrosis).
- Marfan syndrome and Ehlers-Danlos syndrome.
- Skeletal dysplasias.
- Trisomy 21 (Down syndrome).