Description
The REALQUALITY RS-FACTOR V LEIDEN is an IVD for detection and genotyping of the G1691A (Leiden) mutation in the human gene coding for coagulation Factor V by Real-Time PCR.
Product Characteristics
- The assay requires only 1 µL of DNA extracted
- Compatible with the most common Real-Time PCR instruments
- It is equipped with a dUTP/UNG system for the prevention of carry-over contamination and a fluorescence normalizer
- The automatic format of the assay can be used on GENEQUALITY® automatic platforms
- It includes an automatic interpretation of results with AB SNP Report software
Kit content
Kit content:
- Ready-to-use reagents for Real-Time PCR
- Homozygous and heterozygous positive controls
Further Information
Thrombophilia is commonly defined as any acquired or hereditary disorder associated with an increased risk to develop thromboembolic phenomena. These phenomena occur when blood circulation is blocked by clots, originating in veins or derived from a thrombus in another area of the body. Thrombosis that is not the result of a genetic defect often occurs in elderly persons as a consequence of strong environmental risks factors, including surgery, bone fracture or cancer. In contrast, hereditary thrombosis is associated with an onset at earlier age, due to the presence of one or more genetic defects caused by gene-to-gene and/or gene-to-environment interactions.
Genetic alterations of different blood components may directly or indirectly influence blood homeostasis, thus triggering a prothrombotic state. Such alterations may lead to the loss of function of natural anticoagulants (e.g. Protein C, Protein S, Antithrombin), to an increased activity of procoagulant factors (e.g. Prothrombin, Factor V, Factor VII, Factor IX, Factor XIII, MTHFR, MTRR) or to diminished fibrinolytic activity (e.g. PAI-1, TAFI).
Factor V, an inactive procofactor of the coagulation system, is an important blood protein. If activated by Thrombin, it forms a double chain molecule (Factor Va), which acts as a cofactor of Factor Xa in converting Prothrombin into Thrombin. Active protein C (APC) inactivates Factor Va by selective proteolysis of the Factor Va heavy chain at amino acid positions Arg306, Arg506 and Arg679. The current hypothesis is that Factor-V-related thrombosis can be caused by a multitude of genetic mutations affecting critical sites of the Factor V protein.
A G-A transition in exon 10 of the Factor V gene leads to the substitution of the amino acid arginine by a glutamine in position 506 of the protein. This mutated form of Factor V is known as Factor V Leiden and is resistant to inactivation by the active protein C (APC), it is “APC-resistant”.
Individuals that are heterozygous for Factor V Leiden have a seven times higher risk to develop deep vein thrombosis, compared to the normal population, whereas homozygous carriers of the mutation have an eighty (80) times higher risk.
Ordering Information
Code | Product | PKG |
---|---|---|
RQ-25-4M | REALQUALITY RS-FACTOR V LEIDEN | 50 tests |
RQ-25-6M | REALQUALITY RS-FACTOR V LEIDEN | 100 tests |
RQ-25-4A | REALQUALITY RS-FACTOR V LEIDEN - Automatic format | 50 tests |
RQ-25-6A | REALQUALITY RS-FACTOR V LEIDEN - Automatic format | 100 tests |