MTHFR Qualitative
Real-Time PCR Kit
MTHFR Qualitative Real-Time PCR kit is a qualitative assay for the detection and differentiation of MTHFR mutations (C677T and 1298C) in human genomic DNA extracted from EDTA whole blood. LNA probes used in this assay specifically detects and differentiate wild and mutant alleles.
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SKU
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100 Rxns : NMFR24004
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50 Rxns: NMFR24004_01
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20 Rxns: NMFR24004_02"
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MOQ
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X
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Y
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Z
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Features & Benefits:
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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 Compatibility: 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.
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Read user manual
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.
