Resistance Assay Lab Report

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Introduction

Factor V Leiden is a hereditary gene mutation that leads to the disorder in the clotting process of blood. It causes the diseases known as Factor V Leiden Thrombophilia or APC resistance. Factor V functions normally in the coagulation pathway of the blood. But a mutation occurs and its cleavage by the body’s natural inhibitor Protein C is slowed. This leads to excessive clot formation in the blood vessels. This mutation is the most common cause for a Deep vein thrombosis(DVT).1 DVT happens most frequently in the legs but can also happen in other parts of the body.3 About 5% of caucasians are heterozygous or homozygous carriers of this factor mutation.2 Heterozygous carriers are associated with a three to sevenfold increase
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A Guanine to Adenine nucleotide substitution at location 1619 is noted in Factor V Leiden mutation.
APC resistance assay is a screening test for Factor V Leiden mutation. An aPTT is performed on the patient’s sample first. Then a second aPTT is performed with Activated C protein(APC). The two results are compared as a ratio: (aPTT + APC/ aPTT - APC). If the patient has normal Factor V, then this ratio will be greater than two. If it is greater than two, then the patient may have Factor V Leiden.1
Multiplex PCR-RFLP can be used to identify the genetic mutations in Factor V leiden and the prothrombin gene. The G20210A mutation in the prothrombin gene also determines an individual's predisposition for developing venous thrombosis. This method can be used to show homozygosity or heterozygosity of the mutation in an individual. This can be recommended for family members with the mutation who would like another way to determine their risk for developing
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Periodic surveillance and evaluations are to be maintained in order to assess risks, especially during pregnancy. Aside from blood thinners, individuals with Factor V Leiden Mutation may minimize their risk of blood clots by: living a healthy lifestyle, avoiding prolonged periods of immobility, keeps preexisting medical complications under control, and avoid smoking. Anyone who has a family member that has had a DVT or PE that is unexplained, recurrent, or developed in an unusual site may find it beneficial to be tested for factor V
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