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Human Genetics

HEMATHOLOGY

RDB2020 Factor V / II MTHFR

Factor V-Leiden is the most widespread genetic risk factor for deep venous thrombosis in general public. Reason is a SNP in factor V gene which makes the protein resistant against inactivation. Insufficient inactivation of factor V means a higher risk for thrombosis.

Very similar effect is caused by a mutation in regulatory region of prothrombin gene. Here the mutation causes higher synthesis of factor II resulting in more thrombin and therefor higher risk for thrombosis. Hyperhomocysteinemia is another risk factor for cardiovascular disease and deep venous thrombosis. SNPs C677T und A1298C in methylenetetrahydrofolate reductase (MTHFR) gene result in a reduced activity of the enzyme to metabolize homocysteine, which then accumulates.

AID Factor V/II MTHFR Kit enables detection of risk alleles for thrombosis.

 

 

 

Characteristics

  • Detection of risk allele FV:Q506 in Factor V gene, G20210A in Factor II gene and
    C677T and A1298C in MTHFR gene
  • Differentiation between homozygous and heterozygous genotype
  • PCR with subsequent lineprobe assay
  • Specimen: human DNA isolated from buccal swab, Citrate- or EDTA-blood or biopsy
  • Control bands on every strip show correct DNA isolation, amplification and hybridization
  • Results within 4 hours
  • Suited for automated systems
  • Evaluation and documentation with AID Scanning system

 

Reader Systems

AID Scanner