Pediatric Genetics

Our division provides genetics services to children and adults including but not limited to:

  • Evaluation for possible genetic causes of birth defects, chronic diseases or developmental problems
  • Diagnosis of genetic disorders by physical examination and/or genetic testing
  • Prenatal testing for chromosomal abnormalities and possible genetic disorders
  • Tests to determine the chances for a genetic disorder to recur in a family
  • Management and treatment of a genetic disorder
  • Support groups for the genetic disorder

Physicians of the division are board-certified by the American Board of Medical Genetics and the American Board of Pediatrics, and our Genetic Counselors are certified by the American Board of Genetic Counseling.

More information about Our Services »

Clinical Services

Genetics Clinic Hours: Monday 8:30-12:00
Thursday 8:30-11:30, 2:00-3:30
Friday 8:30-12:00 Location: 5th Floor, Battle Building
1204 W. Main St., Charlottesville, VA 22903
Satellite clinics are held in Bristol, Lynchburg, and Winchester, Virginia
Electronic Consultation »
Appointments & Referrals:
434-924-2665 or 800-251-3627 ext. 4-2665
Fax: 434-924-1797
Lysosomal Storage Disease Program We provide comprehensive care for individuals throughout the State of Virginia who have lysosomal storage diseases (LSDs). Our services include:

  • Identification and diagnosis of LSDs in pediatric and adult patients
  • Genetic counseling for patients and family members
  • Coordination of treatment via Enzyme Replacement Therapy and other approved therapies
  • Participation in research studies and disease registries
  • Coordination of multidisciplinary care
  • Continuity of care and long term follow-up
  • Psychosocial support and education for patients and families
To make an appointment or for questions:

Contact Dr. William Wilson, Program Director



800-251-3627 ext. 4-2665

Metabolic Diseases Program We are a referral and treatment center for the state Newborn Screening Program covering the western portion of Virginia. Abnormal test results for various diseases are communicated to the Metabolic Diseases Program, enabling the medical staff to provide follow-up and treatment to children with inborn errors of metabolism and their families. Our patient population includes children and adults with PKU, HCU, MSUD, Urea Cycle Disorders, MCADD, Galactosemia, and Biotinidase Deficiency. To make a referral:
Call 434-924-2665, ask for Dr. William Wilson, Program Director, or
Barbara Goodin, MS, RD, Program Nutritionist
Cytogenetics Laboratory Our laboratory offers:

  • Diagnostic cytogenetic testing including chromosome analysis, fluorescent in-situ hybridization studies, and assay CGH analysis
  • Biochemical and molecular testing through the Biochemical Genetics Laboratory and Molecular Diagnostics Laboratory
  • Wide range of specialized tests provided by reference laboratories


Department of Pediatrics
P.O. Box 800386
Charlottesville, VA 22908-0386
Fax: 434-924-1797

Division Chief
William G. Wilson, MD
Professor of Pediatrics

Administrative Assistant III
Nathaniel Braintwain

Faculty & Staff

William G. Wilson, MD
Jennifer B. Humberson, MD
Barbara J. Goodin, MSc, RD
Matthew J. Thomas, MSc, LCGC
Shelley Towner, MSc, LCGC
Caitlin Troyer, MSc, LCGC
Berkley Schmidt, MSc, LCGC

Patient Education

Research Activities

Faculty in our division are currently engaged in research in the areas of:

  • Angelman syndrome
  • Prader-Willi syndrome
  • Turner syndrome
  • Skeletal dysplasias
  • PKU
  • Homocystinuria
  • Organic acidurias
  • Disorders of fatty acid oxidation
  • Fabry disease
  • Gaucher disease
  • Mucopolysaccharidoses