Molecular Test Screens for Hereditary Thrombophilia

DNA used in the assay is obtained from peripheral blood, sputum, or buccal swab.

The designed microarrays technology includes nine mutations associated to thrombophilic risk: Factor V Leiden, Factor II G20210A, Methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, plasminogen activator inhibitor (PAI )4G/5G, PAI -844 A>G, Angiotensin-I-Converting Enzyme Gene (ACE) Ins/Del, Beta Fibrinogen -455G>A, Factor XIII Val34Leu and three mutations involved in warfarin pharmacogenetics: Cytochrome P450 2C9 (CYP2C9) and Vitamin K epoxide reductase complex 1 (VKORC1).

The microarray panel has been introduced by CGC Genetics, (Newark, NJ, USA). The company offers a broad menu of more than 1,500 molecular diagnostic, cytogenetic, and clinical genomic Clinical Laboratory Improvement Amendments (CLIA) laboratory tests that cover all the major disciplines of medicine.

Thrombophilia or a predisposition for thrombosis can arise from genetic factors, acquired changes in the clotting mechanism, or, more commonly, an interaction between genetic and acquired factors. About 40% of patients with thrombosis have inherited the disease, which is suspected in individuals with a history of venous thromboembolism (VTE). This can manifest as deep vein thrombosis (DVT) or pulmonary embolism, especially in women with a history of VTE during pregnancy. It can be associated with oral contraceptive use, and in individuals with a personal or family history of recurrent thrombosis. The clinical expression of inherited thrombophilia is influenced by multiple factors such as the number the risk alleles, coexisting genetic or acquired thrombophilic disorders, and circumstantial risk factors, which have a supra-additive effect on overall thrombotic risk.

Treatment of thromboembolism is expensive and avoidable. Yet, 10% of U.S. population is at risk and they should be treated by virtue of having one or more of these risk mutations across eight genes. For example, Warfarin is a major treatment option and the CGC panel will identify both who to treat and the corresponding drug dosage.

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