Services & Programs

Clinical services provided by the Division of Medical Genetics include diagnostic evaluation, medical management and genetic counseling for patients with known or suspected genetic disorders.

Diagnostic evaluation involves a comprehensive review of medical and family history, review of previous laboratory or diagnostic studies, physical examination (by a board-certified geneticist), and a detailed discussion of findings related to the condition in question and medical recommendations. Making the diagnosis of a genetic condition sometimes involves specialized genetic testing. Individuals are referred for a diagnostic evaluation if:

  • A known genetic condition exists in the family
  • A possible genetic condition exists based on symptoms or past medical history
  • A second opinion is requested.

Medical management involves periodic visits to the medical genetics facility for monitoring of symptoms or preventive care relating to a patient's genetic disorder. While we do not provide routine medical care or care for acute illness in general, we are able to evaluate patients for problems that relate to their primary genetic diagnosis.

Genetic counseling is provided to patients as a part of their visit to Penn Medical Genetics. A genetic counselor or medical geneticist meets with the patient and loved ones to discuss:

  • Cause of a genetic condition
  • Risk of passing on a genetic condition to future generations
  • Education about the genetic conditio
  • Living with a genetic disorder


Penn Medical Genetics provides the following services: