• The INFINITI MTHFR Assay is CE Marked.
  • The INFINITI MTHFR is designed to identify genetic variants of the MTHFR gene.
  • The INFINITI MTHFR utilizes the MTHFR Intellipac, MTHFR Amp Mix and MTHFR BioFilmChip Microarray.
  • The INFINITI MTHFR Assay is automated by the INFINITI Analyzer.

Analytes Detected: 

  • MTHFR: A1298C and C677T


  • Simultaneous Multiplexed determination of 2 genetic variants for MTHFR
  • Rapid turnaround time enhances workflow efficiency.
  • Load & Go automated on the INFINITI/INFINITI PLUS Analyzer.
  • Replicate determinations on a single BioFilmChip Microarray ensures quality results.

Sample Type and Volume: 

  • Uses 0.2 – 2.0 mL of peripheral whole blood in EDTA (purple top) tube.
  • Requires 50 ng DNA / reaction

Clinical Relevance: 

  • Genetic variations in the MTHFR gene can cause hyperhomocysteinemia, which can lead to a host of ailments
    including risk of blood clots, heart attacks, and miscarriages in women

Clinical Utility: 

  • Identifying women who are at risk for multiple stillbirths and spontaneous miscarriages.
  • Assessing the risk of cancer patients at risk for venous thrombosis.
  • Preventing thrombosis in women who are taking oral contraceptives or hormone therapy.


  1. 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 methylenetetrahydrofolate reductase”. Nat. Genet. 10 (1): 111–3. doi:10.1038/ng0595-111. PMID 7647779.
  2. Jacques PF, Bostom AG, Williams RR, Ellison RC, Eckfeldt JH, Rosenberg IH, Selhub J, Rozen R (January 1996). “Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations”. Circulation 93 (1): 7–9. PMID 8616944.
  3. Yamada K, Chen Z, Rozen R, Matthews RG (December 2001). “Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase”. Proc. Natl. Acad. Sci. U.S.A. 98 (26): 14853–8. doi:10.1073/pnas.261469998. PMC 64948. PMID 11742092.

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