Use this page to stay informed about urgent notices, service developments, and operational updates from the NHS South West Genomic Medicine Service. Click on the relevant update below for further details.
Urgent notices and service updates
Pause of routine genetic testing services for facioscapulohumeral muscular dystrophy (FSHD) type 1
We regret to inform users that routine facioscapulohumeral muscular dystrophy type 1 (FSHD1) testing (FSHD Southern blotting, R74) has been temporarily paused due to an unexpected supplier issue.
We have had to take the difficult decision to pause routine FSHD1 testing in order to preserve capacity to maintain an urgent service.
We are working urgently to validate a new supply route and testing approach, after which the service will resume. This temporary pause is expected to result in some delays to routine testing requests. We are also contacting clinical teams directly to keep them informed and provide further guidance where required. Referrals should continue to be submitted as usual and they will enter a managed queue for testing as the new testing approach is introduced.
Please note that testing for FSHD type 2 is not impacted by this issue.
Urgent testing to support prenatal testing can still be undertaken – please contact the laboratory directly to discuss any imminent cases (SWGLHneurology@nbt.nhs.uk).
We apologise for any inconvenience and will provide further updates as the situation develops.