Genetics

We deliver 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 of rare disease.

Our test repertoire includes >75 rare genetic disorders, a comprehensive range of tests for leukaemia and lymphomas, and a molecular oncology service to test solid tumours for mutations that predict response to targeted therapy.  There is close working with other pathology specialties through the Exeter Biomedical Diagnostic Hub established in 2013 to develop genomic diagnostic tests and skills across the pathology workforce.

Exeter is internationally acclaimed for its research into monogenic diabetes and hyperinsulinism. The genetics 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.

A sample export service is provided for tests referred by centers within the peninsula that are not available in our laboratory. Samples will be sent to an accredited laboratory whenever possible, but some rare tests may only be available in non-accredited or research laboratories. Onward referral centres can be found through the following portals: www.ukgtn.nhs.uk, www.orpha.net and www.genetests.org. To discuss where a test which is not performed in-house will be referred to please contact the laboratory.

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

Testimonials

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

NHS Consultant Diabetologist

“Thank you for your excellent service.”

Clinician, Iceland

“Many thanks for your brilliant service and to your team too.”

Clinician, South Africa

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

Consultant Geneticist, Manchester

“Amazing service!”

Consultant Endocrinologist, Ireland

“Many thanks for providing this important information so rapidly”

Clinician, South Africa

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

Clinician, Denmark

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

Consultant Oncologist, Exeter

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

Consultant Paediatrician, Canada

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

Consultant Physician, Belfast

“Thanks so much again for brilliant service”

NHS Consultant Clinical Geneticist