DiaPlexC™ MTHFR Genotyping Kit (Conventional)

The DiaPlexC™ MTHFR Genotyping Kit is designed to screen the single nucleotide polymorphism of the MTHFR gene using a Real-Time allele-specific Multiplex PCR with the human genomic DNA.

Pathogen Information

The MTHFR gene provides instructions to make an enzyme called methylenetetrahydrofolate reductase. This enzyme is responsible for converting one form of folate (5, 10-methylentetrahyfrofolate) into the unstable but most active folate (5-methyltetrahydrofolate or methylfolate) in every single cell of the human body. Methylfolate has two critical tasks, it helps make neurotransmitters in our brain and it allows for making a critical compound called s-adenosylmethionine (SAMe), which helps regulate more than 200 enzymes in the human body. This enzyme catalyzes the conversion of homocysteine to another amino acid, methionine. The polymorphism of the MTHFR gene generally occurs through the mutation of C677T and A1298C that reduces the functional ability of the MTHFR enzyme and causes an increase in levels of homocysteine in the blood as well as dysregulation of various important enzymes responsible to maintain the homeostasis in the body. So, MTHFR polymorphism can cause cerebrovascular disease, cardiovascular disease, peripheralvascular disease and a variety of venous thrombosis risks, cancer, depression etc. In addition, it is reported to cause birth defects, especially neural tube defects and premature birth of the fetus. So, it is important to screen the MTHFR to reduce risk factors in general and to prevent health from worsening in people who have already noticed the above mentioned diseases in their family health.

Detection Technology

Conventional PCR


Blood, Buccal epithelial cell, Hair (root)

Target Genes

Mutation C677T and A1298C of MTHFR gene


HotStart PCR System: Ultra highly-specific and sensitive results.
Multiplex PCR: Multiple targets in a single reaction.
Reliable System: Internal control.


2X Multiplex PCR Smart mix
Primer mixture
Standard marker
Control templates
Nuclease-free Water


1.Fodinger M, Horl WH, Sunder-Plassmann G (2000). “ Molecular biology of 5,10-methylenetetrahydrofolate reductase.”. J Nephrol 13 (1):20-33

2.Schneider JA, Rees DC, Liu YT, Clegg JB (May 1998). “Worldwide distribution of a common methylenetetrahydrofolate reductase mutation”. Am. J. Hum. Genet, 62 (5): 1258-60

3.Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJ, den Heijer M, Kluijtmans LA, van den Heuvel LP et al. (May 1995). “ A candidate genetic risk factor for vascular disease: a common mutation in methylenet etrahydrofolate reductase”. Nat. Genet. 10 (1): 111-3