Turcot syndrome

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.


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