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Pediatric Genetics

young girl and mother visiting the genetic counselor

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.  

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

Conditions We Offer Testing & Support For

This list is not comprehensive. Many genetic conditions are rare. But our specialists can help you determine what testing makes the most sense for your family. These are some of the concerns that we see more frequently.
Chromosome Conditions, Deletions, and Duplications

  • 22q11.2 Deletion Syndrome
  • Down Syndrome
  • Turner Syndrome

Connective Tissue Disorders

  • Marfan Syndrome
  • Vascular Ehlers-Danlos
  • Osteogenesis Imperfecta

Cystic Fibrosis

Blood Disorders

  • Sickle Cell Disease
  • Hemophilia
  • Thalassemia

Growth Disorders

Hereditary Cancer Syndromes

  • Lynch syndrome

Metabolic Disorders

  • Phenylketonuria

Neurological Disorders

  • Epilepsy

Developmental Conditions

  • Autism spectrum disorder

Congenital Differences

  • Congenital Heart Disease
  • Cleft lip/cleft palate