Genetic testing and services

Genetic testing can inform your future decisions. We analyze your genes to give you a precise diagnosis and discuss your test results to help you make informed health-care decisions—for yourself and your family.

A pregnant woman and her partner holding hands and speaking to a doctor.

Advanced genetic analysis and support at Penn Medicine 

Some diseases are linked to genes, which we inherit from our parents. If you have a family history of an inherited disease or are experiencing concerning symptoms, genetic testing may provide answers. Penn Medicine’s comprehensive team of clinicians, researchers, and genetic counselors is here to help.

Types of genetic tests we offer 

Using the latest gene analysis methods in our Genetic Diagnostic Laboratory, we look for variants, or changes in your genes that could cause a health condition or be passed down to your children.

We may use several genetic tests to diagnose or evaluate your risk of developing a condition. Depending on the test, you give a sample of your blood, saliva, or other fluid.

Your provider will recommend the right genetic test based on your family history and symptoms. Tests may include:

Programs and services 

Our specialized genetics clinics and services deliver individualized care tailored to your needs.

Schedule an appointment

We can help you schedule an appointment or you can search our directory of specialists.