DiagMMR assay validation samples

The DiagMMR assay recognizes individuals with decreased MMR capacity (i.e. Lynch syndrome), who, therefore, have a significantly elevated cancer risk. To test the sensitivity and specificity of the assay we are collecting validation samples representing a broad range of mutations from LS family members with a known pathogenic MLH1, MSH2 or MSH6 mutation (verified mutation carriers). More specifically, we are collecting fresh dermal tissue samples typically taken from the inner forearm. The sample is placed into provided DiagMMR media for timely courier shipping at our expense. Once we have determined the sensitivity and specificity of the DiagMMR assay with pathogenic mutation carriers, we will move on to testing samples from different VUS classes. The method is based on the functional MMR testing and all mutation types can be tested after validation.

Prior to the sample collection you will need the ethical approval from your local regulatory bodies. We are happy to help you with this process and provide you with all the information you need!

For more detailed information about the method, the sample collection and patient participation please contact Dr. Minttu Kansikas at minttu.kansikas@helsinki.fi.

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