young girl and mother visiting the genetic counselor

Pediatric Genetics

Our team consists of geneticists, genetic counselors, cytogeneticists and a metabolic nutritionist. We're experts in evaluating and managing care for families with genetic or metabolic conditions.

We’re also dedicated scientists, engaged in research to better understand genetic disorders and to develop innovative ways to prevent or treat these conditions. We use the latest genetic testing techniques and provide support as your family faces difficult circumstances.

Pediatric & Adult Support

Many childhood and adult diseases and disorders have genetic causes. You may consider testing if you're concerned because your child:

  • Isn’t meeting developmental milestones
  • Was born with a birth defect
  • Is growing poorly 
  • Has other symptoms often associated with genetic conditions

This may be distressing and overwhelming, but we’re here to offer support and guidance to help your family.  

Conditions We Treat

  • Connective tissue disorders such as Marfan syndrome or Ehlers-Danlos syndrome
  • Cystic fibrosis
  • Developmental delay and intellectual disability
  • Growth disorders, including short stature or overgrowth
  • Hereditary cancer syndromes, such as Lynch syndrome
  • Lysosomal storage diseases
  • Metabolic disorders such as phenylketonuria (PKU)
  • Neurological disorders, such as epilepsy

Evaluation & Treatment for Your Child

Our team works with UVA doctors in other disciplines, such as:

  • Developmental pediatrics
  • Cardiology
  • Neurology
  • Hematology and oncology
  • Endocrinology
  • Nephrology
  • Gastroenterology
  • Pulmonology

We strive for early diagnosis and intervention, giving your child and your family the best chance for a positive outcome and improved quality of life.

Diagnosis & Testing

Our services for children and adults include:

  • Diagnosing genetic disorders
  • Treating genetic conditions
  • Testing for potential genetic causes of birth defects, developmental problems or chronic diseases
  • Testing to evaluate the chances of passing down a genetic disorder to future children
  • Providing counseling and education about the specific condition in the family
  • Offering resources and support group information about genetic disorders

Find out more about UVA's specialty genetics programs.