Expertise in Specific Genetic Disorders

Genetics is central to all healthcare services, because every illness and everyone's health is determined, at least in part, by genes. 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. Our team of medical genetics service providers has special expertise in specific genetic disorders or groups of disorders. Patient care is provided primarily through specialized centers set up to meet the needs of older children and adults with specific inherited disorders.


  • Patient Care

    Penn Medical Genetics identifies hereditary diseases and counsels patients in diagnosis, management and treatment options.

    Patient Care
  • Academics

    Penn Medical Genetics faculty members teach and mentor students throughout the University of Pennsylvania School of Medicine and other universities and hospitals through joint programs.

  • Research

    Penn Medical Genetics researchers are currently investigating several major initiatives that aim to translate new knowledge of genetics into routine patient care.