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Patient Care

The division offers comprehensive clinical genetics services to patients and families with a variety of genetic conditions, including inborn errors of metabolism, congenital birth defects, abnormal newborn screening tests, developmental delay, intellectual disability, hereditary cancer syndromes, and adult-onset conditions, among others. To best meet the needs of our patients, we offer genetic counseling, diagnostic, management and treatment services throughout several multidisciplinary specialty programs and clinics:

  • Pompe Disease Clinical and Research Program
  • Comprehensive Down Syndrome Program
  • Glycogen Storage Disease Program
  • General Genetics Clinic
  • Metabolic Clinic
  • Autism/Medical Genetics Clinic
  • Cardiovascular Genetics Clinic
  • Fragile X Syndrome Clinic
  • Marfan/Connective Tissue Disorder Genetics Clinic
  • 22q11 Deletion Syndrome Clinic

A comprehensive description of all of our medical genetics clinical services, locations, and appointment information is available on Duke Children's.

Learn more