PTEN Genetic Test
Reviewed
Also called: PTEN gene, full gene analysis, PTEN sequencing and deletion/duplication, PTEN FISH, chromosome 10 deletion, CHR 10
A PTEN genetic test uses a sample of your blood or other body tissue to look for changes in a gene called PTEN.
Specimen: Blood, tumor tissue (from surgery or biopsy), bone marrow, buccal (cheek) swab, amniotic fluid, or chorionic villi
Why this test may be ordered
- To find out if a PTEN gene change is involved in your cancer and help guide treatment.
- To check for inherited PTEN gene changes if you have symptoms of PHTS or family members with PTEN changes.
- To understand and manage cancer risk if you have a family history of PTEN changes or PHTS symptoms.
Preparation and collection
If you're having a tissue biopsy or bone marrow test, ask your provider for instructions about how to prepare. A blood test or cheek swab usually doesn't require any preparation.
If you're having a PTEN genetic test because you have cancer, the type of sample used will depend on your cancer: For solid tumors, the test often uses a sample of tissue from the tumor. During a blood test, a health care professional will use a small needle to remove a blood sample from a vein in your arm.
The risks of a biopsy depend on the type of biopsy you have. In general, you may have soreness, pain, or bleeding where the tissue was removed. A blood test has very little risk. During amniocentesis or CVS, you may feel mild stinging or cramping. Both procedures are safe, but they do have a slight risk of causing miscarriage.
Understanding results
If you have cancer and your test results show you have an acquired change in your PTEN gene, your provider can explain what it means for your treatment plan and future health.
- Acquired PTEN change found in cancer cells: These kinds of changes are commonly found in many different types of cancer, including prostate cancer, uterine cancer, and some brain tumors. Limitation: Acquired changes in your genes are not passed down from your parents. Next step: If you have cancer and your test results show you have an acquired change in your PTEN gene, your provider can explain what it means for your treatment plan and future health.
- Inherited PTEN change found: If your test results show that you have certain inherited changes in your PTEN gene, it means you have PHTS. Limitation: It doesn't mean you have cancer. However, your risk of cancer may be higher than most people. Next step: If you've been diagnosed with an inherited change in your PTEN gene, a counselor can explain your risk for cancer.
- 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
If you're thinking about getting tested for an inherited change in your PTEN gene, it may help to talk with a genetic counselor.
- What type of PTEN gene change was found (acquired or inherited)?
- How does this result affect my treatment plan or cancer risk management?
- Should I or my family members consider genetic counseling?
- What follow-up tests or screenings are recommended based on my results?
Evidence source
Source: U.S. National Library of Medicine (MedlinePlus). Practices and reference ranges may differ in your country.