Lynch syndrome is caused by a genetic abnormality that can now  be easily detected via a genetic panel. These tests can be ordered through a physicians or now direct to consumer. While genetic testing 10 years ago cost up to $6,000, it is now available for under $300. The test can be performed with a mouth swab or with a blood sample.

Lynch syndrome is associated with abnormalities in one of five genes. These are MLH1, MSH2, MSH6, PMS2, and EPCAM. The cancer risks are slightly different depending on which gene is affected.

Because of the multiple risk factors associated with Lynch syndrome, it is important to have either a qualified physician or a genetic counselor help with testing and proper follow-up. If the test is negative you are at average risk for cancers, but if the test is positive your risk for certain cancers is increased. It is important to take the necessary steps to lower those risks. It is also important to notify family members if the test is positive since they are also at risk of having Lynch syndrome. Some lab testing companies offer free testing for family members, if the test is done in the next month or two.  Lastly, it is important to consider getting life, disability, or long-term care insurances prior to getting tested, since some insurance companies discriminate against people with genetic conditions when they write these policies. See our section on “insurance IssuesInsurance Issues” for more information.  A genetic counselor can help guide you through this process.

Color Genomics offers a comprehensive genetic panel for $299 that includes Lynch syndrome along with other cancers and health risks. It offers direct to consumer or through a physician's office. Invitae and Myriad Genetics are two other excellent labs that offer testing through physician's offices. They routinely bill insurance companies but also offer a "cash price" that will reduce the patient cost to just $250. If cost is an issue requesting that at the time of ordering is best.