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Clinical Excellence - Molecular Genetics

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Clinical Excellence - Molecular Genetics

 

Welcome to the home page of the Exeter Molecular Genetics Laboratory based at the Royal Devon & Exeter Hospital in Exeter, UK.

 

The laboratory was set up in 1995 to provide a molecular genetic testing facility for the Royal Devon & Exeter Trust and the Peninsula clinical genetics service. It is a member of the SCOBEC network, working in collaboration with the regional molecular genetics laboratories in Salisbury, Cambridge, Oxford, Bristol and Cardiff to provide an efficient genetics laboratory service to approximately 25% of the combined population of England and Wales.  Specialist tests are available for individuals and their families throughout the UK as part of the UK Genetic Testing Network (UKGTN). A number of samples are also received from patients throughout the world.

The service has been accredited by CPA (UK) Ltd, and participates in external quality assessment schemes, UK NEQAS and EMQN external quality assessment schemes.

 

We also offer a sample export service for tests not available at 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.

 

The Exeter laboratory has been using next generation sequencing technology since 2010 to diagnose genetic disorders (Ellard et al Diabetologia 2013, Ellard et al EJHG 2014), identify novel disease genes (Weedon et al AJHG 2011, Lango-Allen et al Nature Genetics 2011, Weedon et al Nature Genetics 2013, Flanagan et al Nature Genetics 2014), detect deep intronic splicing mutations (Flanagan et al AJHG 2013) and characterise translocation/deletion breakpoints by genome sequencing (Lango-Allen et al J Med Genet 2014). We were the first group to identify mutations in a novel regulatory element using genome sequencing (Weedon et al Nature Genetics 2014).  Please click here for more information about this service.

 

The laboratory is open from 8.30am to 5pm Monday to Friday.

 

Please click on the links on the right to access details of the tests provided by the Molecular Genetics Laboratory and other information.

 

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