Clinical Operations

The Division of Medical Genetics of UPMC Children’s Hospital of Pittsburgh houses several clinics listed below, each of which offer an experienced team of faculty and staff including physicians, genetic counselors, metabolic dieticians, and a nurse practitioner.  

Services are provided to identify the underlying cause of a child’s clinical concerns and appropriate treatment/management including evaluation, genetic counseling, diagnostic testing, and management planning. Patients and families receive help in managing genetic conditions including support in maintaining a specialized diet, involvement in research studies, and treatment options. Genetic counseling helps families understand the genetic testing process, cope with and understand diagnoses, and discuss recurrence risk for parents and other family members.

Staff can also help direct patients and families to resources, such as early intervention, special school programs, support groups, comprehensive developmental assessment, physical, occupational and speech therapy and home nursing care. 

Our Specialty Clinics

  • Genetic Testing Clinic: Specializes in services for children with known or suspected genetic disorders, including birth defects, complex health histories, specific genetic syndromes, disorders of development, and chromosomal abnormalities.
  • Inborn Errors of Metabolism (IEM) Clinic: Specializes in diagnostic services, evaluation, treatment, management, genetic counseling and support for children and families with a diagnosis of an inborn error of metabolism.
  • Phenylketonuria (PKU) Clinic: Specializes in the diagnosis, treatment and management of one of the most common inborn errors of metabolism.
  • Lysosomal Storage Disorder (LSD) Clinic: Specializes in the diagnosis, treatment, research opportunities, support, and genetic counseling for various lysosomal storage disorders, including Fabry disease, Gaucher disease, Pompe Disease, Niemann-Pick, Lysosomal Acid Lipase deficiency, and mucopolysaccharidoses.  Referrals for newborn screening for MPS Type I and Pompe Disease are also seen through this clinic.
  • Prader-Willi Syndrome Clinic: An interdisciplinary clinic between Medical Genetics and Endocrinology providers, which provides specialized services for those with a diagnosis of Prader-Willi Syndrome. This clinic focuses on the medical, behavioral, and psychological aspects of the condition to provide management and treatment options that improve the overall quality of life for those with the condition.

For more information on clinical services offered through the Division of Medical Genetics, please visit us at UPMC Children's Hospital of Pittsburgh.