LAMP Human MTHFR mutation KIT

The LAMP Human MTHFR mutation KIT is an in vitro diagnostic test intended for the qualitative detection of the methylenetetrahydrofolate reductase (MTHFR) C677T 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 C677T (rs1801133)

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

Fast

No DNA extraction

Compatible with a variety of qPCR machines

Automatic interpretation of the results

Linked products

2nd MTHFR mutation (A1298C)

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.

GeneFox

Software that helps to interpret the results of LaCAR GPD and pharmacogenetics assays and generates standardised reports.

MTHFR is an enzyme that helps to regulate homocysteine levels in the body. Mutations (for both polymorphisms C677T and A1298C) in the MTHFR gene are associated with elevated homocysteine levels, which increase the risk of atherosclerosis and may lead to heart attacks, strokes, or venous thrombosis.

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.

Background Information

The LC-MTHFR-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.