The Biochemical Genetics Clinic serves patients and their families who have suspected or known hereditary metabolic disease. Professionals in pediatrics, nutrition, genetic counseling, and nursing provide initial diagnostic/confirmatory services and longitudinal care. Follow-up care is also provided to clients who require careful nutritional supervision. The clinic staff works closely with the Wisconsin Newborn Screening Program as well as staff from other disciplines in the Clinical Services Unit of the Waisman Center and UW Hospital and Clinics.
Services at the Biochemical Genetics Clinic:
1-Evaluation and treatment of metabolic conditions such as aminoacidopathies (such as phenylketonuria orPKU), organic acidemias, and defects of fatty acid metabolism.
2-Multidisciplinary consultation from pediatrics, nutrition, genetic counseling and nursing professionals.
3-Carrier testing for several metabolic disorders
4-Referral to support organizations, research studies, etc.
5- Consultation and follow-up for the Wisconsin Newborn Screening Program.