Genvinset® FIIFV multiplex

Thrombophilia consists in the predisposition to form blood clots, caused by an underlying hypercoagulation state attributable to inherited or acquired disorders of blood coagulation or fibrinolysis

The G20210A mutation in the prothrombin gene (FII) has been associated with an increased risk of thrombosis. Although the molecular mechanism underlying the G20210A mutation is yet unclear, it seems to cause overexpression of the prothrombin gene, thus increasing the risk of thrombosis.

Furthermore, it is well documented that another missense mutation, the G1691A mutation in the gene that encodes for the coagulation Factor V (known as FV Leiden or FVL) is also associated with an increased risk of thrombophilia and venous thrombosis.

INTENDED USE

Genvinset® FII-FV multiplex is a semi-automated kit for the in vitro qualitative detection of the thrombophilia risk associated G20210A mutation (NCBI dbSNP rs1799963; NM_000506.5:c.*97G>A) in the prothrombin (FII) gene (OMIM: 176930) and G1691A mutation (NCBI dbSNP rs6025; NM_000130.5:c.1601G>A) in the factor V (FV) gene (OMIM: 612309) associated with thrombophilia risk in genomic DNA extracted from whole blood using Real-Time PCR technology with specific TaqMan® probes.

Patients who can benefit from this determination are those referred by a specialist. The results of this test should not be the only ones on which the therapeutic decision is based and should be used as an aid in the diagnosis together with results of other markers of the disease.

The intended user of the kit is technical personnel trained to carry out the protocol and the interpretation of results described in the Instructions for Use.

WORKFLOW

RESULTS

Homozygous wild-type FV and FII sample:

Heterozygous FV and FII sample:

Homozygous mutant FV and homozygous wild-type FII sample:

Homozygous wild-type FV and heterozygous FII sample:

Limitations

• Mutations or polymorphisms at annealing primer/probe sites are possible and may result in the lack of allele definition. Other technologies could be necessary to resolve the genotyping.
• Data and result interpretation should be revised by qualified personnel.
• This product is an auxiliary tool for the diagnosis of patients with suspected thrombophilia. Use these results in conjunction with clinical data and results of other tests performed on the patient.