PTEN Genetic Test
Reviewed
This test looks for changes (variants or mutations) in the PTEN gene, a tumor suppressor gene. It is not a routine test. It may be used to guide cancer treatment if you have cancer, or to check for inherited changes linked to PTEN hamartoma tumor syndrome (PHTS) if you have symptoms or a family history.
Preparation and collection
For a tissue biopsy or bone marrow test, ask your provider for instructions. A blood test or cheek swab usually requires no preparation. For amniocentesis or chorionic villus sampling (CVS), you may need to drink extra fluid and not urinate before the test so your bladder is full.
Understanding this test
Use the reference interval and units printed by the laboratory that performed the test. A result outside that interval is not a diagnosis by itself, and a result inside it does not rule out every condition. Your symptoms, history, medicines, timing, and related tests can change what the result means.
- This test is not a routine screening test and is only used in specific clinical situations.
- Acquired PTEN changes are common in many cancers and do not indicate an inherited syndrome.
- Inherited PTEN changes are uncommon; a negative result does not rule out other genetic conditions.
- Test results should be interpreted by a healthcare professional, ideally with genetic counseling.
- For prenatal testing (amniocentesis or CVS), there is a slight risk of miscarriage.
What to do next
Discuss your results with your healthcare provider or a genetic counselor to understand what they mean for your health and your family.