Genomic

MHRA produces reference materials for human genomic diagnostics where there is strong evidence of need. These control materials are produced as WHO international standards or as WHO International Reference Reagents.

As higher order materials, WHO international standards are suitable for in vitro diagnostic use worldwide. These primary standards support genomic diagnostics as they can be used to calibrate diagnostic assays, kits, and secondary standards.

Our genomic reference materials are prepared from cell lines established from patients, or genetically manipulated cell lines to re-create mutations of interest. As such, our reference materials do not harbour recognition sequences or viral constructs, fully mimicking patient DNA.

Our materials are produced as single, large, well-characterised batches, assuring consistent high quality and highly reproducible performance between samples.

Our reference material panels for human genetic diagnostics are typically genomic DNAs extracted from patient-derived cell lines. These materials are either freeze-dried in glass ampoules or liquid genomic DNA for storage at -70°C.

All genomic reference materials are supplied on a not-for-profit basis.