A Novel Method of Testing for Lynch Syndrome.

A PCR based genetic testing method that does not require capillary electrophoresis equipment to complete

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Background.

University of Nottingham researchers have developed improved technology to test for Lynch Syndrome utilising the simplified work stream outlined below:

  • MSI testing – this involves testing tumour DNA using 5 different PCR reactions with HRM performed as part of this reaction.
  • BRAF mutation testing – this involves testing tumour DNA using 1 PCR reaction with HRM performed as part of this reaction.

The primers used for both MSI and BRAF testing have been designed in-house by the researchers and are not published.

Thus, both current practice and this test involve PCR. However, the current technology does not require the second step of CE or Sanger sequencing as the HRM is done as part of the PCR. This significantly cuts down the amount of work necessary to achieve the same result. Implementation of this test in Molecular Diagnostics Labs will therefore save money both in terms of manpower and consumables compared to current practice. Given the imminent NICE guidance will result in an increase in workload for testing for Lynch Syndrome, the savings may be significant.

This test requires real-me PCR machines with HRM capability. These are common and would be present in most Molecular Diagnostic labs. In contrast, the capillary electrophoresis machines and sequencing machines are not required.

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