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The International BMMRD Consortium

Our Laboratory Facilities

The genetic diagnosis of BMMRD can be made in any clinically approved (CLIA) laboratory in the world. The Consortium can help to facilitate the diagnosis through contacts with The Hospital for Sick Children (SickKids), Mount Sinai Hospital in Toronto and several leading mismatch repair clinical laboratories in the world.

For the screening of tissues for mismatch repair deficiency and microsatellite instability, we use the central pathology laboratories at Mount Sinai Hospital and SickKids. These laboratories have unique expertise and use CLIA approved tests which are routinely used to investigate patients with Lynch syndrome or BMMRD.

Analysis of tumors for mutational load and other tumor specific mutations are done in Toronto by the SickKids Cancer Sequencing Program (KiCS) led by Dr. Adam Shlien. These analyses are performed in CLIA approved setting, where hundreds of samples are analyzed for clinical genetic tests.