Factor II-V & MTHFR


  • The INFINITI Factor II-V & MTHFR Assay is CE Marked.
  • The INFINITI Factor II-V & MTHFR Assay is designed to identify genetic variants of Factor II, Factor V Leiden, and MTHFR genes.
  • The INFINITI Factor II-V & MTHFR Assay utilizes the Factor II-Factor V Leiden-MTHFR Intellipac, Factor II-Factor V Leiden-MTHFR Amp Mix and Factor II-Factor V Leiden-MTHFR BioFilmChip Microarray.
  • The INFINITI Factor II-V & MTHFR Assay is automated by the INFINITI Analyzer.

Analytes Detected: 

  • Factor II (Prothrombin): G20210A
  • Factor V Leiden: G1691A
  • MTHFR: A1298C and C677T


  • Simultaneous Multiplexed determination of 4 genetic variants for Factor II (Prothrombin), Factor V Leiden, and 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: 

  • Requires 50 ng DNA / reaction

Clinical Relevance: 

  • The Factor II (Prothrombin) variant gene is the second most common genetic defect for inherited thrombosis.
  • The Factor V Leiden mutation is the most common variant associated with inherited thrombosis.
  • FV mutation has a high prevalence in the general population (4 – 6% of US Population), and accounts for 85-95% of activated protein C resistant cases.
  • Enhanced risk of venous thrombosis, with the presence the Factor V Leiden variant, with odds ratios (ORs) of 3 to 8 in heterzygotes and 30 to 140 OR in homozygotes.
  • 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: 

  • The increased risk of venous thrombosis in patients who are heterozygous for the prothrombin (G20210A) gene polymorphism is 3-fold.1
  • Homozygotes for this polymorphism have been described but are very uncommon.1
  • Patients with a previous, or current, thrombotic event that have the prothrombin (G20210A) gene polymorphism are potentially at increased risk for recurrence.1
  • Patients with the prothrombin (G20210A) mutation are at increased risk of thrombosis when exposed to other risk factors such as:
  • (1) smoking
  • (2) pregnancy
  • (3) Obesity
  • (4) Oral Contraceptives
  • (5) Immobility1
  • “The risk of thrombosis is substantially increased for patients with multiple genetic risk factors (i.e., the “double hithypothesis”) including the prothrombin (G20210A) gene mutation, Factor V Leiden Leiden mutation, hyperhomocysteinemia, methylenetetrahydrofolate reductase (MTHFR) thermolabile polymorphism, protein C deficiency, protein S deficiency, and antiphospholipid antibody syndrome(s).”1
  • Definition and confirmation of the prothrombin (G20210A) gene polymorphism is necessary for genetic counseling of patients for themselves and family members.
  • 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. http://pathology.mc.duke.edu/coag/PTGlflyer2.html
  2. Grody W, Griffin J, Taylor A, Korf B, Heit, J. (2001) American College of Medical Genetics Consensus Statement on Factor V Leiden Leiden Mutation Testing, Genetics in Medicine, 3:2, 139-147.2. 
  3. Salomon O. et al; Single and Combined Prothrombotic Factors in Patients With Idiopathic Venous Thromboembolism;
  4. Arteriosclerosis Thrombosis and Vascular Biology, 1999, 19: 511-518 © 1999 American Heart Association http://pathology.mc.duke.edu/coag/PTGlflyer2.html
  5. 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/ng0595-111PMID 7647779.
  6. 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.
  7. 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.261469998PMC 64948PMID 11742092.

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