Rare Disease Genomics

Sequencing Facilities

The University of Exeter Sequencing Facility provides state-of-the-art genomics and bioinformatics analysis, specialising in providing a bespoke sequencing services to researchers in academia and industry. Equipment includes short-read (Illumina) and long-read (Oxford Nanopore Technologies and PacBio) sequencing platforms.

The NHS 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. Part of the South West Genomics Laboratory Hub, we provide diagnostic sequencing in the South West region, as well as the national NHS rapid genome sequencing service for acutely unwell children with a likely monogenic disorder (R14 service).