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:
We recommend a diagnostic genetic test if you have symptoms or a family history of an inherited disease. Diagnostic tests confirm or rule out a diagnosis and help us understand the likelihood that you’ll develop a specific genetic disease in the future or pass a condition to your children.
Children with a suspected genetic condition see our specialized pediatric genetic team. Our genetic counselors help your family understand how certain inherited conditions may affect your child’s development.
Your genes can impact how your body responds to certain medications. We use pharmacogenetics testing to help people who are not responding to certain drugs or who experience unwanted side effects.
Penn Medicine is the only health system in the southeastern Pennsylvania and New Jersey area offering this innovative option, which tests for genetic variants that affect your response to dozens of medications. Our pharmacist and genetic counselor review test results with you and recommend medication changes.
Prenatal genetic testing can help you know if your unborn baby has a genetic disorder. We may recommend testing if you have a family history of inherited conditions or are at increased risk of having a baby with a genetic condition.
We may collect and test umbilical cord blood or amniotic fluid to confirm or rule out a suspected genetic condition. If you’re undergoing IVF, your provider may suggest preimplantation genetic testing (PGT) to screen embryos for inherited conditions.
Our genetic counselors help prospective parents understand the testing process, explain the results of prenatal genetic testing, and connect you with resources.