The PMS2 test is a genetic test used to detect mutations in the PMS2 gene, which is one of the genes associated with Lynch syndrome (hereditary nonpolyposis colorectal cancer or HNPCC). This gene plays a critical role in DNA mismatch repair, helping to maintain the integrity of genetic information by correcting errors that occur during DNA replication.

Mutations in the PMS2 gene increase the risk of developing several types of cancer, primarily

• Colorectal Cancer: Individuals with PMS2 mutations have a significantly increased risk.
• Endometrial Cancer: Higher risk in women with PMS2 mutations.
• Other Cancers: Increased risk of ovarian, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin cancers.

Normal Range: The test results do not have a "range" like blood tests. Instead, they indicate the presence or absence of PMS2 gene mutations.

• • Negative Result: No mutations detected in the PMS2 gene.
  • Positive Result: One or more mutations detected in the PMS2 gene, indicating a higher risk for Lynch syndrome-related cancers.

• Negative Result: Indicates no detectable mutation in the PMS2 gene. However, this does not completely rule out the possibility of Lynch syndrome as other genes (e.g., MLH1, MSH2, MSH6) might also be involved.
• Positive Result: Indicates the presence of a PMS2 mutation. This suggests an increased risk for cancers associated with Lynch syndrome. Genetic counseling is recommended to discuss the implications of the result and to consider further genetic testing for other family members.

Blood Sample: Typically drawn from a vein in the arm.