Reference materials are an important constituent of any quality assured test but there are currently few reliable sources in molecular genetic testing. Field trials of the DNA reference materials provided by the NGRL are being performed by The National Institute for Biological Standards and Control (NIBSC). These are intended for referral for World Health Organisation (WHO) certification.
 

The first batches of genomic DNA from cell lines and reference materials were produced for bowel cancer (HNPCC) and Fragile X disease (FraX). Immortalised cell lines were established and archived by NIBSC following blood sample collection from 30-40 patients. Prototype reference materials were validated by nine CRMGEN partner laboratories and stability testing was led by the EU Institute for Reference Materials and Measurement (IRMM). Prototype reference materials were first field-tested using the network of molecular genetic laboratories co-ordinated through the European Molecular Genetics Quality Network. The FraX reference materials panel has been certified by the WHO and was made available in the NIBSC online catalogue in December 2008.
 

Development of Prader-Willi, Angelmans and spino-cerebellar ataxia (SCA) copy number materials is underway.
 

NGRL Wessex Reference Materials project information