Genetics clinics and specialized care

Our Genetic Diagnostic Laboratory continues to develop new methods to analyze genes. You can access diagnostic gene testing that may be unavailable at other laboratories.

Learning your child has a genetic condition can be overwhelming. We work closely with providers at Children's Hospital of Philadelphia to create care plans led by an expert team of pediatric and genetic specialists.

Genetic disorders may cause symptoms that impact multiple parts of the body. Your experienced care team recommends proven treatments that reduce symptoms and slow disease progression.

Because genetic conditions run in families, they may affect several generations. Our compassionate genetics counselors provide insights, answer questions, and help your whole family navigate treatment and screening options.

Getting a diagnosis can be a long and difficult process. Working with an experienced team ensures you will get timely, accurate results. Many of our genetic specialists are also researchers, with an in-depth understanding of genetic conditions and therapies.

Metabolic genetic disorders, including Gaucher and Fabry disease, affect how the body converts food to energy. Treatments may include infusion therapy, where medication is given through an IV.

The primary cilium acts as a sensor on cells in the body. Primary cilium dysfunctions result in genetic disorders called ciliopathies. These conditions can cause a wide range of symptoms like obesity, malformations, and chronic kidney disease.

Our Comprehensive Ciliopathy Center provides coordinated care to manage symptoms of these conditions in children and adults.

Familial lipid disorders are cholesterol-related conditions that can increase your risk of heart disease. Our specialists help you reduce your risks with medication and lifestyle changes. We also help identify other family members who may be at risk.

We work with clinicians across many medical specialties to provide comprehensive care for people experiencing intellectual disabilities, structural differences, developmental disorders, and metabolic issues resulting from genetic conditions.

Hereditary hemorrhagic telangiectasia (HHT), or Osler-Weber-Rendu syndrome, frequently goes undiagnosed. HHT impacts blood vessel formation, increasing risk of excessive bleeding and organ abnormalities. We are one of only two U.S. locations offering DNA testing to detect HHT, assisting patients in getting an answer and starting treatment.

Lipodystrophies cause the body to store fat in the blood or liver. We treat patients with all lipodystrophies, tailoring a unique care plan to the individual and the subtype of lipodystrophy.

Proteins in our cells help us use chemicals in our bodies. LSDs result when cell proteins are absent or not working correctly, which can lead to organ damage. There are over 50 known LSDs, including Fabry disease, Gaucher disease, and Pompe disease.

Experts in our LSD clinic confirm a diagnosis and manage organ-specific symptoms. We offer infusion therapy for LSD throughout the region. Patients may also benefit from innovative research and treatments through the Penn Orphan Disease Center.

Marfan syndrome weakens connective tissue in the body. Connective tissue supports organs and bones and is important for growth and development. Our specialty clinic offers support and management for people of all ages with known or suspected Marfan syndrome or related conditions like familial ectopia lentis or familial aortic aneurysm.

Adults and children receive excellent care for all types of neurofibromatosis, including Neurofibromatosis type 1, Neurofibromatosis type 2, and Schwannomatosis. These genetic conditions cause benign tumor growth throughout the body. We collaborate with Children’s Hospital of Philadelphia, connecting your family with pediatric neurofibromatosis specialists.

TSC may cause lesions to grow on the skin or other parts of the body. Our team provides genetic testing, education, counseling, and specialized care for children and adults.

VHL causes tumors in the brain, eye, spine, and other parts of the body. With Penn Medicine’s advanced imaging and experienced interventional radiologists, early tumor detection is possible. If a tumor is detected, we use minimally invasive surgery to remove it and quicken your recovery.