Lynch Syndrome

Your healthcare provider will offer prenatal screening tests and genetic testing to diagnose Lynch syndrome before your baby is born. Genetic tests can help diagnose your child after they are born as well.

Genetic testing, which involves a blood draw or obtaining a brushing from the inside of the mouth (buccal swab), helps determine if a MLHL, MSH2, MSH6, PMS2 or EPCAM gene mutation is present in the family. If genetic testing reveals a gene mutation, your healthcare provider will confirm their diagnosis of Lynch syndrome.

What tests diagnose cancers associated with Lynch syndrome?

If you have a Lynch syndrome diagnosis, your healthcare provider will offer regular tests to check for cancer. Tests to detect common cancers associated with Lynch syndrome include:

• Colonoscopy: A colonoscopy examines the inside of your large intestine, colon and rectum with a camera attached to a scope. Your healthcare provider will recommend scheduling a colonoscopy every one to two years.
• Transvaginal ultrasound: A transvaginal ultrasound examines your ovaries and uterus via a probe inserted into your vaginal canal. Your healthcare provider will recommend scheduling a transvaginal ultrasound every one to two years.
• Urinalysis: A sample of your urine helps your healthcare provider screen for renal tumors and other complications associated with Lynch syndrome. Your provider will order a urinalysis annually.
• Tumor biopsy: If your healthcare provider detects cancer based on a growth of tissue (tumor) on your body, they might perform a biopsy, where they will remove a small sample of the tumor to examine the cells in a laboratory for cancer.
• Upper endoscopy or capsule endoscopy: Your healthcare provider will use a scope with a camera or a microscopic camera taken as a pill to look for stomach and small bowel cancer. Your provider will schedule an endoscopy every three to five years.