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R454 for treating symptomatic obstructive hypertrophic cardiomyopathy

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

From 01 January 2025, NHS England will commission CYP2C19 genotyping via the NHS Genomic Medicine Service (opens in a new tab) (GMS) for patients who are eligible for mavacamten treatment and the National Genomic Test Directory (opens in a new tab) will be updated accordingly.

From this date, eligible Trusts must request CYP2C19 genotyping via their designated genomic laboratory provider within the NHS GMS, and not via the previous service provider funded.

There are two genomic laboratory providers within the NHS GMS who are commissioned to provide CYP2C19 genotyping to the eligible population across England:

  • North West Genomic Laboratory Hub (NWGLH) – Liverpool Genetics Laboratory
  • South West Genomic Laboratory Hub (SWGLH) – Bristol Genetics Laboratory.

Trusts covered by East Genomics should use the SWGLH for ordering this test.

Trusts can access further information and instructions about requesting CYP2C19 genotyping via the designated genomic laboratory provider. The website will include details such as, the test request form to be used, sample requirements, transportation instructions and process to return results.

Samples and test request forms for R454 must be sent directly to SWGLH and not to East Genomics. If samples are sent to the wrong genomic laboratory provider this will result in a delay in the return of results.

Results will be returned to the contact details provided in the test request form via email. This can be the referring clinician’s email address or a central/team email address for the clinical service.

Contact information

Samples and test request forms must be sent to:

South West Genomics Laboratory Hub
Bristol Genetics Laboratory
Southmead Hospital
Westbury-on-Trym
Bristol
BS10 5NB

Email: SWGLHenquiries@nbt.nhs.uk

Tel: 0117 414 6168