The MutaGEL® MTHFR kit allows the detection of the most common C677T polymorphism of the human MTHFR gene encoding for the enzyme 5,10-methylenetetrahydrofolate reductase. This mutation causes the substitution of alanine with valine within the enzyme (Ala 222 Val). The Eagle Biosciences MutaGEL® MTHFR is for research use only and is not intended for diagnostic or therapeutic procedures. The MutaGEL® MTHFR is for research use only and is not intended for diagnostic or therapeutic procedures.

SKU: KT0001 Categories: ,


MutaGEL MTHFR PCR Assay manufactured in Germany by Immundiagnostik

Size: 24 Samples
Method: PCR (allel specific)
Sample Type: DNA (e.g.whole blood, cheek swab)
Sample Size: 200 µL
Alternative Names: Human MTHFR PCR Assay Kit, MutaGEL MTHFR C677T PCR Assay Kit
For Research Use Only
Control Included

Assay Background

Hyperhomocysteinemia is the result of a disturbed homocysteine metabolism often due to genetic defects. The increase of homocysteine plasma level is, therefore, a risk factor for cardio- or cerebrovascular complications as well as for venous thrombosis and migraine. Patients often carry the very common C677T mutation in the MTHFR gene coding for a thermolabile variant of the MTHFR enzyme with reduced activity. Also, an A1298C mutation in the MTHFR gene increases the homocysteine plasma level additionally, but only in case of already present C677T heterozygotes. Nevertheless, it could be an option to analyze also this polymorphism in a separate PCR to determine complete genetic risk factors for hyperhomocysteinemia.

Storage and Stability
Storage at < -18°C. The reagents are stable in the unopened micro tubes until the expiration date indicated. In general, avoid several thawing/freezing cycles for the reagents in order to conserve their stability – if necessary, make suitable aliquots. Before use: Spin tubes briefly before opening (contents may become dispersed during shipment).

Related Products

The PCR results for positive control in DNA fragments of indicated length and for the samples at least one of both amplification products must be detectable. If this is not the case, the sample must be tested a second time or the complete analysis must be repeated with freshly isolated DNA. If there are no positive control DNA fragments present, the amplification was incorrect and the chosen PCR conditions have to been proven/ corrected.

Additional Information

Assay Principle

The Eagle Biosciences MutaGEL® MTHFR PCR Assay Kit contains a set of primers which amplify a specific sequence within the human MTHFR gene. The amplified product obtained from a wild-type DNA will not be cut by the restriction enzyme included in this kit, whereas the fragment obtained from DNA carrying the very common C677T- mutation will be cut once. The generated amplification products and their cut-fragments are analyzed through gel electrophoresis.


Product Manual