Medical Genetics

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Clinical Services

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 dukechildrens.org, the patients' web site for Duke Pediatrics.