Penn Medical Genetics provides diagnosis, counseling and management of specific hereditary disorders. 

Your visit will include a review of medical history, family history and a physical examination. Our team will discuss your inherited condition and make recommendations for management and/or treatment. They will also discuss the benefits and limitations of genetic testing. Following the appointment, you and your care providers are sent a letter summarizing the visit and recommendations.

A genetic counselor may contact you before your first appointment to learn about the reason for referral, family history, medical history and what testing has already been performed. In many cases, medical records and test results will need to be reviewed by our team before your first visit. Based on a review of records, additional consultations or tests may be required before the visit.

Translational Medicine Services and Conditions Treated

HHT / Osler-Weber-Rendu Syndrome

Hereditary hemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu syndrome is an inherited disorder characterized by malformations of various blood vessels.

Lysosomal Storage Disorders

Lysosomal storage disorders are inherited genetic diseases that result from an enzyme deficiency, which result in a build-up of the substances enzymes would normally eliminate.

Marfan’s and Familial Aortic Aneurism and Dissection

Marfan syndrome is a hereditary disorder that affects the body's connective tissue. 


Neurofibromatoses are a group of conditions characterized by the growth of benign nerve tumors.

Other Genetics Services

Learn about other genetic services provided at Penn, including prenatal screening, counseling and risk evaluation.

Tuberous Sclerosis Complex

Learn about tuberous sclerosis complex (TSC), and how our physicians work to help patients with TSC.

Von Hippel-Lindau (VHL) Syndrome Center

Von Hippel-Lindau (VHL) syndrome is a hereditary cancer syndrome. At Penn, we provide coordinated multidisciplinary care including diagnosis, medical management, genetic counseling, genetic testing, education and support.

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