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
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: firstname.lastname@example.org