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Children's Hospital
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Pediatric Genetics

Visit UVA for genetic disorders treatment, evaluation, support, including cystic fibrosis treatment, Turner syndrome treatment, PKU and more.

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.

Genetic Services

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.  

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.

Genetic Diseases

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.

The many genetic disorders we diagnose and manage include:

  • Developmental delay and intellectual disability
  • Autism spectrum disorder
  • Chromosome conditions like Down syndrome and Turner syndrome
  • Chromosome microdeletion and microduplication syndromes like 22q11.2 deletion syndrome
  • Cystic fibrosis
  • Metabolic disorders such as phenylketonuria (PKU)
  • Birth defects, such as cleft palate and cleft lip or congenital heart defects
  • Growth disorders, including short stature or overgrowth
  • Connective tissue disorders such as Marfan syndrome or Ehlers-Danlos syndrome
  • Neurological disorders, such as epilepsy
  • Hereditary cancer syndromes, such as Lynch syndrome
  • Lysosomal storage diseases


Learn more and make an appointment with the Pediatric Genetics clinic


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