Reference materials for human genomic diagnostic tests are important in aiding test accuracy. This is of particular significance as the conditions being screened for are usually of major clinical impact. Our reference material panels for human genetic diagnostics are genomic DNAs extracted from patient-derived cell lines. These materials are either freeze-dried in glass ampoules for long-term stability or liquid DNA for storage at -70oC.
NIBSC has produced genomic reference materials as both WHO international standards and CE-marked materials for DNA-based testing. These genomic reference materials are intended for in vitro diagnostic use, for example in validating methodologies. WHO international standards are not intended as routine ‘run-controls’, but as materials to occasionally test reagents, equipment and staff, as well as to act as calibrants for in-house local controls. NIBSC has also produced CE-marked panels of routine ‘run-controls’ for the typing of the HLA-A and HLA-DRB1 genes as well as Lynch syndrome (HNPCC) mutation screening. These panels are CE-marked under IS0 13485 for in vitro use in Europe; available for research-use worldwide.
All genomic reference materials are available for purchase and are supplied on a not-for-profit basis. WHO international standards are priced from £74; CE-marked materials are priced from £147. (Prices as at October 2013; subject to annual review.)
The need for certified genomic reference materials in aiding diagnostic accuracy is well communicated in Berwouts S. et al., Quality assurance practices in Europe: a survey of molecular genetic testing laboratories. Eur J Hum Genet.2012 Nov;20(11):1118-26.
NIBSC is keen to work with external parties to develop reference materials where needed and unavailable. To contact one of the team click here: grmteam@nibsc.org