The MLH1 gene is located on chromosome 3p21, covers 58 kb and contains 19 exons. The PMS2 gene is located on chromosome 7p22, covers 63 kb and contains 15 exons. Constitutional abnormalities of these genes (which may range from point mutation to complex rearrangement) are generally associated with an increased risk of HNPCC (Hereditary Non Polyposis Colon Cancer).

The PXT2 kit allows the detection of quantitative genomic rearrangements of all sizes located in any region of the MLH1 gene (the primers target each of the 19 exons of the gene) and in a part of the PMS2 gene (the primers target exons 6 to 10 of the gene).

MLH1 and PMS2 genomic maps (excluding intronic regions) :

: PLEXAMP targeted genomic regions

User manual PXT2