Specialty Genetics Programs

Cardiovascular Genetics Program

Our Cardiovascular Genetics Clinic — a joint program between UVA’s nationally recognized Heart and Vascular Center and the UVA Children’s Hospital— serves patients with genetic heart diseases and their families. The first of its kind in Virginia, the program focuses on three types of heart diseases known to run in families:

  • Arrhythmias (heart rhythm problems)
  • Aortic diseases (problems with the main blood vessel in the body)
  • Cardiomyopathies (heart muscle problems)

Our genetics team will determine whether you or your family members should have genetic testing to enhance your heart care treatment plan, evaluate your risk of an inherited heart disease and assess your chances of passing the heart condition on to your children.

Lysosomal Storage Disease Program

We provide evaluation and treatment for children and adults who have lysosomal storage diseases (LSD). These diseases, which include Fabry disease, Gaucher disease and mucopolysaccharidoses, are caused by enzyme deficiencies that lead to a buildup of unwanted substances in the body’s cells, which ultimately damages the cells and results in serious health problems.

We work closely with UVA specialists in other disciplines to develop a personalized treatment plan for each patient. Other services include:

  • Enzyme replacement therapy and other approved treatments
  • Genetic testing and counseling for patients and family members
  • Opportunities to participate in clinical research and disease registries
  • Emotional support and education for patients and families

Make an Appointment

Lysosomal Storage Disorders Program

Phone: 434.924.2665 

Fax: 434.924.1797

Metabolic Disease Program 

We diagnose and treat children and adults with a wide range of metabolic conditions — genetic disorders characterized by the body’s inability to properly convert food and other chemicals into energy. These conditions include:

  • Phenylketonuria (PKU)
  • Homocystinuria (HCU)
  • Maple syrup urine disease (MSUD)
  • Galactosemia
  • Biotinidase deficiency
  • Fatty acid oxidation disorders
  • Glycogen storage diseases

Our metabolic nutritionist works with your family to help develop a suitable nutrition plan and self-management techniques.

As a referral and treatment center for Virginia’s Newborn Screening Program, we make contact with and provide education and care to families of infants who receive abnormal test results for metabolic conditions.

Make an Appointment

Ask your doctor to make a referral or contact program director William Wilson, MD, or 
program nutritionist Barbara Goodin, MS, RD, CDE at 434.924.2665.

Cytogenomics Laboratory

UVA’s genetics clinical services are complemented by a state-of-the-art Cytogenomics Laboratory, which provides analysis of known or potential chromosome abnormalities to help doctors diagnose a genetic condition or determine an appropriate treatment plan. These tests may be necessary for a variety of reasons, including:

  • Prenatal diagnosis of genetic disorders
  • Patients with birth defects or developmental delays
  • Patients with autism spectrum disorder
  • Hematology and oncology evaluations

We offer the latest cytogenomic tests available, including:

  • Chromosomal microarray analysis (CMA)
  • Chromosome analysis
  • Fluorescent in-situ hybridization (FISH) studies

For more information about genetic testing for you and your family, visit the Pediatric Genetics Clinic.