Eurofins Biomnis code

CYP2C

Synonyms

• Mavacamten
• Sanger

Specialty

Molecular Genetics

Clinical significance

"Mavacamtem (Camzyos) is a myosin inhibitor and is indicated for obstructive hypertrophic cardiomyopathy treatment. The drug is metabolised by the liver by the cytochrome P450 2C19 (CYP2CD19) and with a lower extend, by CYP3A4. CYP2C19 genotyping enables to detect poor CYP2C19 metabolisers patients and avoid acute exposure, which increase the risk for systolic dysfunction compared to other type of metabolisers. As a precautionary measures, a patient is considered as a poor metaboliser if the CYP2CD19 genotyping is not known. The treatment adaptation is: CYP2CD19 (CYP2C19*2/*2; *3/*3; *2/*3) poor metabolisers : Recommended initial dose: 2.5mg/day. Maximum dose: 5 mg/dayCYP2CD19 other type of metabolisers Recommended initial dose: 5mg/day. Maximum dose: 15 mg/dayIf the CYP2C19 genotyping is not known or being processed: Recommended initial dose: 2.5mg/day. Maximum dose: 5 mg/dayNB: The treatment adaptation may lead to dose decrease of treatment or treatment contraindication may be considered for drus interactions* or life style habits (see 4.5 or RCP, table 2)*https://www.hug.ch/sites/interhug/files/structures/pharmacologie_et_toxicologie_cliniques/images/carte_des_cytochromes_2020.pdf. (Source : RNPGx, 24/11/2023) "

Preanalytics

• EDTA whole blood (tube completely filled). 1 extracted DNA tube (minimum volume 50µL with a minimum quantity of 1µg/500ng for the prenatal)

• A tube specifically for this analysis : No

Further information

ALWAYS attach the medical prescription, the clinical patient's history and the consent form signed by both the patient and the prescribing clinical

Methodology

Sanger sequencing

Turnaround time

2 weeks