gb HEMO MTHFR (A1298C)

gb HEMO MTHFR (A1298C)

Detection method: allelic discrimination, real-time PCR

The kit is intended for detection of mutation A1298C in MTHFR gene in human genomic DNA. Detection is based on real-time polymerase chain reaction (qPCR) using fluorescently labelled probes (allelic discrimination).

Clinical implications

Methylenetetrahydrofolate reductase (MTHFR) is the main egulatory enzyme involved in homocysteine and folic acid (folates) metabolisms. This mutation leads to enzyme activity reduction, increase of homocysteine level in blood and methionine deficiency. However, lower catalytic activity of MTHFR enzyme means higher utilisation of 5, 10-methylenetetrahydrofolate in DNA synthesis or repair.

The risk of venous thrombosis increases in combination with other risk factors (e.g. mutation in MTHFR gene – C677T, mutation G20210A in factor II, Leiden mutation, long-time immobility, incorrect regimen, hormonal contraception) and grows with the number of mutated alleles in genotype.

Parameters of the diagnostic kit

  • ready-to-use assay
  • sample concentration 1-100 ng/µl
  • positive and negative controls included
  • FAM and HEX channels detection
  • identical amplification profile as gb HEMO, gb GENETIC, gb PHARM kits
Cat. No. Product No. of reactions Price
3203-025 gb HEMO MTHFR (A1298C) 25
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3203 gb HEMO MTHFR (A1298C) 100
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1 kit contains reagents to provide 25 or 100 PCR reactions (20 μl volume of each reaction).

Validated for:

ABI 7500/7500 Fast (ABI)

ABI 7900HT (ABI)

AriaMx (Agilent Technologies)

CFX96/96Touch (Bio-Rad)

iCycler iQ5 (Bio-Rad)

MIC (BMS)

RG 3000 (Corbett Research)

RG 6000/Q (Corbett Research/Qiagen)

SmartCycler (Cepheid)

Stratagene Mx3000P/Mx30005P (Agilent Technologies)

Select further cyclers

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