Diagnosis and Testing
How do I get tested for Turcot syndrome?
Turcot syndrome can be tested for using blood test. The test looks at the spelling of the three genes related to Turcot syndrome (called APC, PMS2, and MLH1). If the test finds any mutations (changes) in the genes that are known to cause Turcot syndrome, then you will be diagnosed with the condition. It is important to understand that even if a mutation is not identified in one of these genes, an individual may still be given a clinical diagnosis of Turcot syndrome if they have enough of the health problems associated with the condition.
To find a cancer genetic counselor near you who can discuss testing, visit the National Society of Genetic Counselors Find a Genetic Counselor website.
More Diagnosis and Testing Content
Who else in my family should I test for Turcot syndrome?
If you have Turcot syndrome, you likely have other family members at-risk. It is likely you inherited the gene mutation from one of your parents. If a parent has the gene mutation, too, then your siblings are at-risk. They each had a 50% chance of inheriting the gene mutation and having Turcot syndrome. If you have children, then they each have a 50% chance of having the gene mutation. To find a genetic counselor near you who can discuss cancer testing, visit the National Society of Genetic Counselors Find a Genetic Counselor website.
Since screening can begin at a young age with this condition, a discussion with a genetics provider is recommended to determine the best time to perform genetic testing. Genetic testing for a hereditary cancer condition is an individual's choice, and is an option available, but not mandatory, for other family members.