LAMP Human MTHFR 2nd mutation KIT
The LAMP Human 2nd MTHFR mutation KIT is an in vitro diagnostic test intended for the qualitative detection of the methylenetetrahydrofolate reductase (MTHFR) A1298C mutation 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 / 96 reactions
Target gene: MTHFR
Linked disease: Thrombophilia
Mutation: MTHFR A1298C (rs1801131)
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
Linked products
The LC-2ndMTHFR-LP kit uses loop mediated isothermal amplification, a robust amplification method using four to six primers per target, that can be directly used on lysed EDTA-whole blood sample, without DNA purification and on extracted DNA samples from whole blood samples.
The genotyping is performed by melting curve analysis after amplification, using a specific probe and quencher for each target SNP
Test principle
Thrombophilia
Thrombophilia is a blood coagulation disorder that increases the risk for venous thromboembolism (VTE). It may be caused by inherited and/or acquired defects in the coagulation system.
MTHFR A1298C mutation
MTHFR A1298C mutation also referred to as rs1801131 is located in exon 7 of the MTHFR gene and results in a single amino-acid replacement (Glu429Ala). The MTHFR gene produces an enzyme that helps to regulate homocysteine levels in the body. Elevated levels of homocysteine show an increased risk for atherosclerosis, which could result in heart attack and/ or stroke and venous thrombosis. This polymorphism has also been suggested to be associated with increased risk for neural tube defects, a higher susceptibility to environmental damage, depression and central nervous system issues.
Also, MTHFR is an important enzyme in the metabolism of folic acid and is crucial for reproductive function. Polymorphisms in this gene sequence have been associated with subfertility.
Compound heterozygotes (heterozygous for both polymorphisms C677T* and A1298C) may develop hyperhomocysteinemia which is a risk factor for coronary artery disease, acute myocardial infarction, peripheral arterial disease, stroke, and venous thromboembolism.
European carrier frequency: 0.3%**
African carrier frequency: 0.1%**
Asian carrier frequency: 0.2%**
Background information
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