LAMP Human CYP2C9 mutation KIT
The LAMP Human CYP2C9 deficiency KIT is an in vitro diagnostic test intended for the qualitative detection of two less functional CYP2C9 alleles (*2, *3) by Loop-mediated isothermal amplification (LAMP) on EDTA whole blood and extracted DNA.
This assay is dedicated to professional use in diagnostic laboratories. The device is not for self-testing.
Regulatory Status: CE-IVD
Format: 24 reactions
Target gene: CYP2C9
Drug relevance: phenytoin (anticonvulsant), tolbutamide (hypoglycemic drug) losartan (anti-hypertensive), ibuprofen (anti-inflammatory) and warfarin (anticoagulant)
Variants detected: CYP2C9*2 (rs1799853) and CYP2C9*3 (rs1057910)
Method: LAMP + meting curve analysis
Sample: EDTA whole blood - no DNA extraction required - or extracted DNA
Compatible instruments: LightCycler 480 I&II / Cobas z 480 (Roche); CFX96 / CFX Opus 96 (Bio-Rad); QuantStudio 1/3/5 & 6/7 Flex (Applied Biosystems); MIC qPCR (Bio Molecular Systems); LC-Genie III & Genie HT (Optigene)
Software / result interpretation: Automated genotype calling via GeneFox software; mandatory visual confirmation of the melting curve
Turn around time: < 1h
General information
Advantages
Related kits and solutions
The “LAMP Human CYP2C9 mutation KIT” contains two reaction buffers with each 6 specific primers for one of the polymorphisms, allowing the loop-mediated amplification of a specific region surrounding the targeted polymorphism. Each amplified target sequence is detected by a probe through the detection of fluorescence variation. After amplification, the temperature is decreased to 40°C and the probe hybridizes the amplified fragment, bringing the fluorophore and the quencher in close proximity, resulting in quenching of the fluorescence. During the melting curve analysis, the temperature is gradually increased while the change in fluorescence emission is measured. The probe will detach differently from amplified wild type DNA fragments and mutated DNA fragments, therefore, the change in fluorescence will be observed at a different temperature, allowing to make the difference between homozygous mutated, heterozygous mutated or wild type. The two polymorphisms are detected using two different reaction buffers in two separate reactions.
Test principle
The CYP2C9 gene is located on human chromosome 10. The CYP2C9 enzyme plays an important role in the metabolization of many drugs. Therefore, people with a lower enzyme activity increase their susceptibility to adverse drug reactions or present a lack of response to treatment. Indeed, the carriers of CYP2C9 mutations are not able to normally metabolize different drugs. The principal cause of a deficiency of CYP2C9 enzyme is genetic.
The CYP2C9 enzyme is involved in the metabolism of phenytoin (anticonvulsant), tolbutamide (hypoglycemic drug) losartan (anti-hypertensive), ibuprofen (anti-inflammatory) and warfarin (anticoagulant), among others.
CYP2C9*2 (rs1799853, 430C>T or R144C)
CYP2C9*3 (rs1057910, 1075A>C or I359L)
These two common SNPs in the Caucasian population are responsible for a reduction in the metabolism since they are related with a reduction in CYP2C9 enzyme activity to approximately 12 to 70% (CYP2C9*2) and 5% (CYP2C9*3) compared to the wild-type CYP2C9 activity.
Background information
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