1. HNPCC Case report Referral Bowel Cancer aged 49 and a possible family History of HNPCC

2. Results Bi-directional sequencing and dosage analysis of MLH1 and MSH2. Dosage analysis identified a heterozygous single exon duplication in MSH2 of exon 8. Although the break points cannot be identified the duplication does not extend to exons 7 and 9.

3. Reporting As the result is derived from a single MLPA probe pair it is recommended that the result is confirmed on a second DNA sample or a close affected relative. MLPA does indicate a duplication of MSH2 exon 8 but it does not indicate where in the genome the extra copy is. However this is consistent with a diagnosis of HNPCC.