REALQUALITY RQ-FACTOR V Y1702C

Description

The REALQUALITY RQ-FACTOR V Y1702C is an IVD for detection and genotyping of Y1702C 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. Most commonly, thrombi develop in superficial or deep veins of the legs, but can also be found in veins of the brain, retina, liver or in mesenteric veins.
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-Vrelated thrombosis can be caused by a multitude of genetic mutations affecting critical sites of the Factor V protein.
Several mutations in the Factor V gene are associated with APC-resistance, e.g. Factor V Leiden (G1691A), Factor V Cambridge (R306T) and Factor V Hong Kong (R306G) and H1299R. Although mutation H1299R acts through a different mechanism, it also leads to a delayed inactivation of Factor Va by APC.

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