Thrombotic Risk, DNA Panel

Casandra

Casandra Test Code AR14247Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 0056200CPT Codes 81240, 81241, 81291

Thrombotic Risk, DNA Panel

Also known as: THROMDNA

Clinical Use

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Use

The Thrombotic Risk, DNA Panel is designed to detect the two most common inherited thrombophilias: Factor V Leiden (R506Q variant of the F5 gene) and Prothrombin (G20210A variant of the F2 gene). Additionally, it assesses thrombophilia associated with pathogenic variants in the MTHFR gene (c.665C>T and c.1286A>C). These genetic factors contribute significantly to thrombotic risk assessment, providing critical information for evaluating potential venous thromboembolism (VTE) risk in individuals. Understanding these genetic predispositions aids in the management and prevention of thrombotic events.

Special Instructions

Informed Consent for Genetic Testing is required for patients from New York. The test uses whole blood specimens collected in Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B) tubes. Refrigerated transport is necessary, and specific collection methods ensure sample integrity.

Limitations

The test does not detect rare sequence variations beyond the specified variants (R506Q in F5, G20210A in F2, and c.665C>T, c.1286A>C in MTHFR). Mutations in the F5 and F2 genes that are not within the provided assay target may go undetected. Variants beyond those examined in the MTHFR gene are not covered. Thus, diagnostic limitations must be considered, particularly for rare alleles or mutations beyond the panel's scope.

Test Details

New York Approved