Blood relatives of a person with Peutz-Jeghers syndrome (PJS) are all at risk to also have PJS. All first-degree relatives (parents, children, brothers, and sisters) of a person with a genetic mutation in the STK11 gene have a 50% risk to also have the mutation and have PJS. These individuals should consider being tested to see if they also carry the mutation. Early diagnosis can help reduce the chances of serious complications from the condition.
Consultation with a medical geneticist or genetic counselor is recommended before genetic testing so that all of the options and possible test results can be discussed ahead of time. This individual will also help explain the test results and coordinate any follow-up as needed.
Visit the National Society of Genetic Counselors website to learn more about genetic counseling services and to find a genetic counselor in your area.
Other Questions About Peutz-Jeghers syndrome
- Who else in my family should be tested for Peutz-Jeghers syndrome?
- Where should I get treatment for Peutz-Jeghers syndrome?
- Where do I find other people with Peutz-Jeghers syndrome?
- When do I need to start screening examinations for Peutz-Jeghers syndrome?
- What types of tests are used in an initial exam for Peutz-Jeghers syndrome?
