Clinical Services

Clinical services are a critical part of the comprehensive care the Division of Genetic and Genomic Medicine of UPMC Children’s Hospital of Pittsburgh 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.

Medical Biochemical Genetics Fellowship

The Medical Biochemical Genetics Fellowship is a one year follow-up training program to the Medical Genetics Residency. Fellows will spend 75 percent of their time in a busy inborn errors of metabolism practice mastering diagnosis and management of these patients in the inpatient and outpatient setting. Trainees will have the remaining 25 percent of time to pursue a research project with a research mentor. Projects may be basic science or clinical research. The trainee will be ABMG (American Board of Medical Genetics) board-eligible for certification in Medical Biochemical Genetics at the end of this year.

To apply or for inquires about the Medical Biochemical Genetics Fellowship at UPMC Children’s Hospital of Pittsburgh, please contact or send completed application form to:

Uta Lichter-Konecki, MD, PhD
Program Director

Division of Genetic and Genomic Medicine
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Drive
4401 Penn Avenue
Floor 3
Pittsburgh, PA 15224