CYP2C19 gene variant analysis
- Description
- Individuals with polymorphic variants in the CYP2C19 gene are at risk of adverse reactions or poor response to medications that are metabolised by CYP2C19, meaning that dose adjustments or alternative therapy may be necessary. The CYP2C19 genotyping panel consist of CYP2C19 alleles CYP2C19*2, *3 and *17. This test is not currently included in the laboratory's scope of UKAS accreditation to ISO15189:2022.
- Clinical details
Clopidogrel is an antiplatelet drug commonly prescribed after ischaemic stroke or transient ischaemic attack to help reduce the risk of blood clots that could lead to further strokes. Clinical evidence indicates that individuals with loss-of-function CYP2C19 alleles are more likely to have further strokes compared with people without loss-of-function alleles as clopidogrel is not as effective. These patients may be offered alternative antiplatelet therapies (CYP2C19 genotype testing to guide clopidogrel use after ischaemic stroke or transient ischaemic attack, NICE, diagnostic guidance [DG59], 31 July 2024). Mavacamten is indicated for the treatment of obstructive hypertrophic cardiomyopathy. The European Medicines Agency (EMA) label for mavacamten suggests that patients should be genotyped for CYP2C19 to determine the appropriate drug dose to avoid increased risk of systolic dysfunction side effects (EMA, summary of product characteristics).
- Related condition
- Reference range
N/A
- Synonyms
CYP, CYP2C19, clopidogrel, mavacamten
- Testing site
- Synnovis : Reference Services : Blackfriars Hub
- Laboratory
- Precision Medicine
- Sample type and volume required
3 mL blood EDTA (purple top)
- Call in advance
No
- Special sample instructions
N/A
- Storage and transport
Store in fridge. Transport at room temperature (or refrigerated) to lab within 5 days/1st class post.
- Turnaround time
5 working days
- Patient instructions
N/A
- Time limit for extra tests
N/A
- Contacts
Precision Medicine Laboratory at Blackfriars Hub
Phone: 020 4 591 0058
Reference Chemistry
Floor 1, Synnovis hub
Friars Bridge Court
41-43 Blackfriars Road
London
SE1 8NZ
