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

Biochemical/Metabolic Diseases Services

The Translational Medicine and Human Genetics program provides a thorough evaluation including medical and family history, a physical examination, and laboratory studies to determine if you have a biochemical or metabolic disease. Genetic testing can also be coordinated. Learn more.

Castleman Disease Services

Castleman disease is a rare disease that affects the lymph nodes and other tissues throughout the body. The Translational Medicine and Human Genetics program specializes in evaluating individuals with Castleman disease. Learn about this rare condition.

Comprehensive Ciliopathy Center

Our Comprehensive Ciliopathy Center includes a team of clinical genetics doctors, genetic counselors and expert specialty care doctors with experience and interest in diagnosing and managing patients with ciliopathy conditions.

Familial Lipid Disorders Services

Familial lipid disorders may be caused by underlying genetic factors. They are cholesterol-related conditions that can cause damage to your heart. The Translational Medicine and Human Genetics program at Penn provides an accurate diagnosis and how to best treat the condition.

General Genetics Clinic

Penn Medicine’s General Genetics Clinic evaluates, diagnoses, and manages patients with suspected or known genetic conditions. These may include syndromic conditions, chromosomal disorders, and single gene disorders.

HHT Center of Excellence

Hereditary hemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu syndrome is an inherited disorder characterized by malformations of various blood vessels. The Translational Medicine and Human Genetics program specializes in evaluating this condition.

Lipodystrophy Services

The Translational Medicine and Human Genetics program provides an accurate diagnosis of the various types of lipodystrophy and comprehensive care for this rare disease.

Lysosomal Storage Disorders

Our specialists at the Translational Medicine and Human Genetics program are experts in Lysosomal storage disorders, a group of 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 Aneurysm and Dissection

Marfan syndrome is a hereditary disorder that affects the body's connective tissue. At the Translational Medicine and Human Genetics program, we are dedicated to the comprehensive evaluation and management of older children and adults with a known or suspected diagnoses of Marfan syndrome.


The Translational Medicine and Human Genetics has been designated a Neurofibromatosis Clinic Network Affiliate Clinic by the Children's Tumor Foundation. Patients of all ages and with all types of neurofibromatoses receive comprehensive health care.

Other Genetics Services

The Translational Medicine and Human Genetics program offers many other genetic services including prenatal screening, counseling and risk evaluation. Learn more about how we can help you or your loved one receive an accurate diagnosis and proper treatment.

Pharmacogenetics Testing

Pharmacogenetic testing allows patients insight into how genetic variants impact a person’s response to drugs.

Preventive Genomic Screening

Penn Medicine is the first medical center regionally and one of the first nationally to offer a personalized preventative genomic evaluation, a valuable tool in identifying risk factors for future disease.

Tuberous Sclerosis Complex Services

Tuberous sclerosis complex is a highly variable genetic disorder that affects several systems of the body. Tuberous sclerosis complex causes characteristic skin lesions and growths in the brain, kidneys, heart and other organs. Learn about tuberous sclerosis complex and how our physicians help patients with this disorder.

Von Hippel-Lindau (VHL) Syndrome Center

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