The National Genetics Reference
Laboratories (NGRLs) in Manchester & Wessex were established in 2002 by the UK Department of Health to support NHS diagnostic genetic services.
Our remits included development, assessment and validation of new technologies; informatics, bioinformatic services and tools; quality management systems; development of reference and control reagents.
NGRL Manchester works in the field of bioinformatics and health informatics, at the interface of genetic and genomic healthcare and research, to support the translation of new technology and data into improved healthcare.
Projects include DMuDB, a database of clinical quality genetic variants; SNPCheck, an online primer checking tool to identify underlying SNPs; analysis of bioinformatic tools, including missense mutation prediction tools; and provision of bioinformatics training for clinical scientists.
Mr Andrew Devereau
Phone: 0161 276 8703
NGRL Wessex focuses on the development, validation and quality assurance of genetic testing for both constitutional and acquired abnormalities. Our remit encompasses cytogenetic, molecular cytogenetic and molecular genetic analysis.
We are currently working on a number of areas relevant to NHS genetic diagnostics, including National Institute for Health Research funded projects into non-invasive prenatal diagnosis (RAPID) and prenatal diagnosis using array technologies (EACH); development of next generation sequencing tests for stratified medicine in cancer (Technology Strategy Board) and standardisation of molecular testing for leukaemia (EUTOS).
Prof Nick Cross
Phone: 01722 429080