MLH1 Germline Mutation Detection by Next-Generation Sequencing (Whole Blood)

Why This Test Is Done

Your doctor may recommend this test if you have a family history of hereditary nonpolyposis colorectal cancer (Lynch syndrome) or other related cancers, or if you have symptoms that suggest a genetic predisposition. It’s also used in genetic counseling and risk assessment for cancer surveillance programs.

What to Expect Before the Test

You’ll provide a blood sample, usually drawn from a vein in your arm. The process is quick and typically painless. No special preparation is needed, but inform your doctor about any medications or health conditions you have.

What the Test Results Mean

If a mutation is found, it means you’ve inherited a change in the MLH1 gene that may increase your risk of certain cancers, such as colorectal, endometrial, or ovarian cancer. If no mutation is detected, your risk may be lower, but further monitoring may still be advised depending on your family history.

Next Steps and Follow-Up

Results will be discussed with you by your healthcare provider, who may recommend additional testing, cancer screening, or lifestyle recommendations tailored to your risk profile. Genetic counseling can help clarify next steps and support.