Key result
Fluorescence-based quantitative real-time PCR (qPCR) provides a rapid, simple, robust, and reliable method for detecting Factor V Leiden and prothrombin mutations in thromboembolic disorders.
This review highlights the utility and principles of various qPCR chemistries for the reliable detection of genetic mutations associated with increased venous thromboembolism risk.
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May support qPCR adoption for VTE genetic testing in labs; leaves open prospective validation against sequencing.
Factor V Leiden and prothrombin (F2) c.20210G>A mutation detection are very important in order to define the increased relative risk for venous thromboembolism in selected patients. Use of DNA-based methods to detect both mutations has become widely available in clinical diagnostic laboratories, including fluorescence-based quantitative real-time PCR (qPCR). The latter is a rapid, simple, robust and reliable method to identify genotypes of interest. There are several chemistries used for qPCR; this article describes their principles and applicability for Factor V Leiden and prothrombin (F2) c.20210G>A mutation detection.
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Tadej Pajič (2010) conducted a review in thromboembolic disorders. fluorescence-based quantitative real-time PCR (qPCR) was evaluated. Fluorescence-based quantitative real-time PCR (qPCR) provides a rapid, simple, robust, and reliable method for detecting Factor V Leiden and prothrombin mutations in thromboembolic disorders.
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