The Exeter Genomics Laboratory delivers high quality genetic and genomic testing for both NHS and research patients by combining the innovation and academic expertise of research scientists with the rigorous quality approach required in a clinical diagnostic service. Our clinical diagnostic facility is underpinned by world-class research, state-of-the-art technology, scientific, bioinformatics and clinical expertise. This vision has enabled rapid implementation of exome, genome and targeted next generation sequencing to improve diagnosis and treatment of rare diseases.
We work in partnership with the Bristol Genetics Laboratory to deliver genomic testing for patients with rare disease and cancer throughout the South West of England. Please visit the South West Genomic Laboratory Hub (SWGLH) website to find out more about delivery of the NHSE/I funded Genomic Medicine Service.
The Exeter Genomics Laboratory has been the national provider of the pioneering national rapid exome sequencing service for acutely ill babies (R14), which, as of 3rd October 2022 will be a whole genome sequencing service (details to be found here). During the first year of the whole exome service, we tested >500 patients, providing a genetic diagnosis for 37% in an average of 10 days. In at least 10 cases the genetic diagnosis changed treatment (for example see this article). We are renowned for our expertise in gene-agnostic trio exome analysis (>3000 patients tested since 2015) which has identified >15 novel disease genes and ended the so-called diagnostic odyssey for many families.
Exeter is one of three designated specialist providers for a comprehensive range of endocrine disorders for NHS patients in England. We are internationally acclaimed for our research into monogenic diabetes and hyperinsulinism and are the national provider for these services.
The laboratory is co-located in the Research, Innovation, Learning and Development Building (RILD) with leading University of Exeter Medical School researchers in genetics, genomics and epigenetics.
Exeter Genomics Laboratory is proud to have been accredited with the Bronze LEAF (Laboratory Efficiency Assessment Framework) award for sustainability.