R454 Mavacamten for treating symptomatic obstructive hypertrophic cardiomyopathy
R454 Mavacamten for treating symptomatic obstructive hypertrophic cardiomyopathy (CYP2C19 genotyping to guide mavacamten dosing)
Test Eligibility
Testing is available to patients with:
1. Symptomatic obstructive hypertrophic cardiomyopathy who have a New York Heart Association class of 2 to 3 AND
2. are eligible for treatment with mavacamten in line with NICE TA 913 (where mavacamten is an add on to individually optimised standard care that includes beta blockers, non-dihydropyridine calcium-channel blockers or disopyramide, unless these are contraindicated).
NICE guidance https://www.nice.org.uk/guidance/ta913
Test Request
The GMS test order form is available below:
This should be completed in full & include the test indication ‘R454 - Mavacamten for treating symptomatic obstructive hypertrophic cardiomyopathy (CYP2C19 genotyping)’.
Alternatively, local test request forms with the equivalent information are acceptable.
Sample Handling
• Please ensure that the patient identity has been verified before taking the sample.
• The sample should be labelled with at least 3 patient identifiers including the patient’s name & date of birth.
• Please send the completed referral form and the labelled patient sample (2-4ml of EDTA blood) to the designated Genomics Laboratory Hub:
South West Genomics Laboratory Hub
Bristol Genetics Laboratory
Southmead Hospital
Westbury-on-Trym
Bristol
BS10 5NB
Transportation instructions
- Samples should be sent at room temperature. If there is a delay in sending the sample can be refrigerated at +4 degree Celsius for a few days without affecting quality.
- The sample container should be leak-proof and must be placed in a transparent sample bag with the paperwork attached but not in the same compartment as the container. The outer sample packaging must comply with PI 650 for category B substances. The package should be clearly labelled 'diagnostic specimen UN3373'.
- Samples should be sent first class via the Royal Mail postal services.
Test Methodology
- LAMP coupled melt-curve analysis is used to genotype 3 clinically relevant variants in the CYP2C19 gene: c.681G>A (CYP2C19*2), c.636G>A (CYP2C19*3) and c.-806C>T (CYP2C19*17)
Return of results
• Reports will be returned by email within 5 days as a pdf-document.
• Report recipient details (name, job title and email address) should be specified on the referral form.
• Alternatively, the GLH will manage a list of recipients for your region; contact kenneth.smith@nbt.nhs.uk at the SWGLH to discuss what information is required to set this up.
SWGLH details
For enquiries please contact:
Resources
Important resources: