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Genomics

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 disease.

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 is the national provider of the pioneering national rapid exome sequencing service for acutely ill babies (R14 service). During the first year 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 new RILD (Research, Innovation, Learning and Development) Centre with leading University of Exeter Medical School researchers in genetics, genomics and epigenetics (https://www.exeter.ac.uk/genomics).

Please use the menu bar on the right of this page to access details of the tests provided by the Exeter Genomics Laboratory and our contact details.

Testimonials

Some of the positive feedback we have received from clinical geneticists, diabetologists, endocrinologists, oncologists and physicians from labs across the UK and internationally (including Australia, Denmark, Iceland and South Africa):

“Your service is second to none, thank you”

“Thank you for such a comprehensive report”

“I am impressed by the level of service you provide! “

“Thank you so much for finishing this so quickly, I can’t tell you how helpful it is to have the results at this time”

“Once again, our team really appreciate the hard work of your team – you’ve all been amazing and it has really made a difference in this little boy’s care”

“Easily the best molecular lab in the country”

“Always happy to help and clear expertise in their subject.”

“Always a brilliant service – extremely helpful staff”

“Always very polite and helpful.”

“The Exeter molecular genetics laboratory is exemplary – one of the best in the UK”

“Thank you and all your staff for an exemplary service”

“Thank you everyone – what a remarkable service you run” 

“That’s really helpful – as ever. This is why I now send all my samples to Exeter!”

“Many thanks for providing this important information so rapidly”

“Thank you so much for the extremely fast and interesting results of our patient, also for the literature.”

“I’m very grateful for this result having been rushed through urgently so thanks to you all.”

“Thanks for your communication and the speed of this analysis.”

“Thank you for your prompt and helpful answer and advice!”

“Thanks so much again for brilliant service”

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