Factor V Leiden
Real-Time PCR Detection Kit
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SKU
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100 Rxns : NFVL23001
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50 Rxns : NFVL23001_01
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20 Rxns : NFVL23001_02
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Factor V Leiden RT-PCR Detection kit detects G1691A mutation in DNA Extracted from the whole blood for the human factor V gene by the real-time Polymerase Chain Reaction (PCR) method. The method is based on amplifying and detecting the target sequence using allele-specific fluorophore-labeled probes.
Features
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Single-Tube, Multiplex, TaqMan probe-based Qualitative Real-Time PCR Assay
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Internal Control: Wild Type
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RT-PCR Run Time is within 60 Minutes
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Sample Compatability: DNA Extracted from Whole Blood
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Open Platform Kit: Wide Range of RT-PCR Instrument compatibility including CFX96, Rotor-Gene, and QS5.
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Detection Channels Required: FAM, HEX
Storage & Precautions
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Recommended Storage: -20°C
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For Professional Use only.
Clinical Relevance
The coagulation factor V, a large 330-kD plasma glycoprotein, is encoded by the F5 gene. Factor V that circulates with less or no activity. Factor V is converted to the active form, factor Va, by thrombin (Factor II). Activated factor V serves as an essential protein in the coagulation pathway and acts as a cofactor for the conversion of prothrombin to thrombin by factor Xa. Factor Va is inactivated by activated protein C.
Parahemophilia, also known as Factor V Deficiency, is caused due to homozygous or compound heterozygous mutations in the F5 gene.
Factor V deficiency is a rare autosomal recessive bleeding disorder with phenotypic variations. A heterozygous 1691G-A transition in exon 10 of the F5 gene, resulting in an arg506-to-gln (R506Q) substitution was identified by Bertin et al (1994). The presence of R506Q mutation to prevention of inactivation of activated factor V, leading to thrombosis. (OMIM,* 612309 COAGULATION FACTOR V; F5).
The Factor V Leiden mutation (c.G1691A) is a crucial predisposing factor for the occurrence of thrombosis and molecular screening of factor V mutation is essential to assess the risk of thrombosis in asymptomatic patients with a family history of thromboembolic episode.