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Genetic Counseling and Testing

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

Carrier testing

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).

Prenatal services

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