Genetic testing and services
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:
Penn Medicine offers a specialized cancer risk evaluation program dedicated to helping individuals and families understand and manage their risk for hereditary cancers. The program, which includes the Mariann and Robert MacDonald Cancer Risk Evaluation Center and the Basser Center for BRCA, provides a comprehensive suite of services. These services include state-of-the-art cancer risk evaluation, genetic counseling, and genetic testing to identify inherited gene mutations that may increase a person's risk for various cancers, such as breast, ovarian, and gastrointestinal cancers.
Through its expert clinical teams, the program offers personalized care plans tailored to each individual's genetic and family history. This often involves creating a customized cancer screening schedule, providing access to innovative clinical trials, and developing strategies for risk reduction. By offering a multidisciplinary approach, the program connects patients with a wide range of specialists, from genetic counselors and oncologists to social workers, ensuring that both the medical and psychosocial aspects of cancer risk are addressed. The program's mission is to empower patients with knowledge, allowing them to make informed decisions about their health and take proactive steps toward prevention and early detection.
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.
The Penn Medicine Center for Inherited Cardiovascular Disease is a leading program dedicated to the diagnosis, treatment, and management of genetic heart conditions. This specialized center employs a family-based approach, recognizing that inherited cardiovascular diseases affect not only the individual but also their relatives. The program offers comprehensive services including expert evaluation, advanced genetic testing, and genetic counseling to identify individuals at risk and to understand the specific genetic mutations involved. Their team comprises highly skilled physicians, nurses, and genetic counselors with specialized training in familial heart disease, enabling them to detect subtle signs and provide precise diagnoses.
The center focuses on a wide range of inherited cardiovascular conditions, including various cardiomyopathies, arrhythmias like Long QT syndrome and Brugada syndrome, aortic diseases such as Marfan syndrome, and lipid disorders. By utilizing state-of-the-art diagnostic tools and personalized treatment plans, the program aims to prevent complications, manage symptoms, and improve the quality of life for patients and their families. They also offer long-term follow-up care, monitoring multiple generations to proactively address potential heart problems before they become symptomatic, thereby empowering families with knowledge and tailored strategies for heart health.
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.
Programs and services
Our specialized genetics clinics and services deliver individualized care tailored to your needs.