Specimen required- Peripheral Blood
TAT- 10 days
What is Microsatellite instability?
Genes which repair mutations in DNA are known as mismatch repair genes. There are four different mismatch repair genes which are responsible for correcting mutations in the DNA. If one of these four mismatch repair genes is mutated, small errors in the DNA remains unrepaired. These errors lead to an expansion or reduction in repetitive sequences in the DNA which is termed microsatellite instability (MSI). If a person is born with a mutation in one of the four mismatch repair genes (ie. the mutation is present in all their body cells), this results in Lynch syndrome. The presence of MSI indicates a defect in one of the mismatch repair genes.
Why get tested?
To assess whether you have the most common inherited form of colorectal cancer, known as hereditary non-polyposis colon cancer (HNPCC). HNPCC is commonly referred to as Lynch syndrome.
When to get tested?
If you have colorectal cancer diagnosed at less than 50 years of age. If one or more relatives have colorectal cancer and/or other cancers associated with Lynch syndrome, especially if they are less than 50 years of age.
