The test is designed to identify a genetic predisposition to HNPCC by analysing MSH2 and its upstream gene EPCAM, as well as the MLH1, MSH6 and PMS2 genes. People who are carriers of a mutation in one of these genes have a risk of 80% to develop colon cancer.
Genomic Vision initially validated the assay in partnership with a research team from the Human and Clinical Genetics department at Dutch Leiden University Medical Center.
US Quest Diagnostics (NYSE:DGX) will start marketing the test in the USA next year.
Genomic Vision also unveiled the validation of a new protocol for detecting probes making up the Genomic Morse Codes for its diagnostic tests for breast and ovarian cancer (BRCA) and Lynch Syndrome, that is compatible with the company's new scanner for molecular combing. Genomic Vision is currently optimising and automating a DNA extraction protocol. Quest Diagnostics is set to start using the scanner's pilot instruments early next year, to be able to commercialise the HNPCC and BRCA tests.
As a result of these milestones, Genomic Vision received milestone payments of EUR 1.7 million (USD 2.3m) from Quest Diagnostics.
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