Clinical Services

Clinical services are a critical part of the comprehensive care the Division of Medical Genetics of Children’s Hospital of Pittsburgh of UPMC provides for children with suspected genetic disorders, including birth defects, specific genetic syndromes, chromosomal abnormalities and inborn errors of metabolism.

Services include diagnostic tests to identify the underlying cause of a child’s problem, evaluation and charting an appropriate course of treatment. Patients and families receive help in managing genetic conditions and treatments, including support in maintaining a specialized diet. The division offers genetic counseling to help families understand genetic disorders, the testing involved, and to discuss recurrence risk information. Staff can also help direct patients and families to other resources, such as early intervention, special school programs, comprehensive developmental assessment, physical, occupational and speech therapy and home nursing care.

Clinical services are organized under two programs: an Inborn Errors of Metabolism Clinic and a General Genetics Clinic. Both offer an experienced team of faculty and staff, including physician geneticists, genetic counselors, a nurse practitioner, metabolic dietitian and social worker.

Inborn Errors of Metabolism Clinic
The Inborn Errors of Metabolism Clinic at Children’s Hospital provides diagnostic services, evaluation, treatment management, genetic counseling and other support to children with these inherited disorders and to their families. A Phenylketonuria Clinic specializes in the diagnosis, treatment and management of one of the most common inborn errors of metabolism.

General Genetics Clinic
The General Genetics Clinic provides diagnostic evaluations, appropriate treatment, follow up and support for children with known or suspected genetic disorders that fall outside the scope of the division’s Inborn Errors of Metabolism Clinic.