External referral rare disease tests

You should discuss testing with your local Clinical Genetics service before requesting this test.

This is a rapid service testing children and their parents (trios) to identify possible genetic causes of severe illness. The test is available to inform clinical management, as a prenatal test or to enable pre-implantation diagnosis.

This test is carried out at Exeter Laboratory, part of the South West GLH. Please email the Exeter team on rduh.exeterexome@nhs.net prior to submitting a patient for this test.

Full details from the Exeter Lab, including patient information and an ordering flowchart.

CYP2C19 genotype testing associated with NICE Technology Appraisal Guidance: Mavacamten for treating symptomatic obstructive hypertrophic cardiomyopathy

This test should be requested for patients who are eligible for mavacamten treatment.

For information on requesting a test kit and sending samples visit the Bristol Lab, South West GLH.

Samples and test request forms for R454 must be sent directly to SWGLH and not to East Genomics. Sending samples to East Genomics will lead to results being delayed.