General Genetics Clinic

The General Genetics Clinic at Children’s Hospital of Pittsburgh provides diagnosis, evaluation, treatment and genetic counseling for children with known or suspected genetic disorders that fall outside the scope of the division’s Inborn Errors of Metabolism program, such as birth defects, chromosome abnormalities and genetic syndromes.

The General Genetics Clinic’s patients typically include children who are referred after a genetic disorder has been diagnosed by another physician and children who exhibit symptoms that suggest a possible genetic disorder, including birth defects, differences in physical features, failure to thrive, seizures and developmental delay.

The clinic offers a full range of the latest diagnostic tests to help physician geneticists identify a specific disorder, confirm an earlier diagnosis, evaluate symptoms for a genetic cause and to decide on the appropriate course of treatment. In certain cases, the General Genetics Clinic will work closely with other physicians and several specialized programs at Children’s Hospital, such as the Down Syndrome Clinic, Craniofacial Clinic, Child Development Unit and Neurofibromatosis Clinic.

Clinic staff are available to assist patients and families manage therapy once it is prescribed and to address complications that may arise. Genetic counselors are available to help families understand genetic disorders, the testing involved and discuss recurrence risk information. A metabolic dietitian provides support to patients whose treatment requires specialized diets. A nurse practitioner and social worker provide patients and families with additional support to meet their medical, management and social needs. Clinic staff can also help patients and families arrange to receive other resources, such as early intervention, special school programs, comprehensive developmental assessment, home nursing and physical, occupational and speech therapy.