Test Code LAB10967 Factor V Leiden (G1691A) & Prothrombin Factor II(G20210A) Mutation
Intended Use
This test is intended to provide results for Factor II (G20210A) and Factor V Leiden (G1691A)mutations as an aid in the diagnosis in individuals with suspected thrombophilia.
The association of Factor II (G20210A) and Factor V Leiden (G1691A) mutations with an increased risk for venous thrombosis has been well documented. Factor II c.*97G>A was previously designated as G20210A or 20210G>A4 and is commonly referred to as prothrombin or, as in the Xpert Factor II & Factor V test, as Factor II (G20210A). The Factor II (G20210A) mutation refers to the G to A transition at nucleotide 20210 in the 3' untranslated region of the gene and is associated with increased plasma levels of prothrombin. Factor V c.1601G>A (p.Arg534Gln) was previously designated as G1691A or Arg506Gln and is commonly referred to as Factor V Leiden or FVL5, or as in the Xpert Factor II & Factor V test, as Factor V (G1691A). Factor V Leiden (G1691A) refers to the G to A transition at nucleotide position 1691 of the Factor V gene, resulting in the substitution of the amino acid arginine by glutamine in the Factor V protein, causing resistance to cleavage by Activated Protein C (APC). Factor II (G20210A) and Factor V Leiden (G1691A) mutations are present in 2% and 5% of the general population, respectively.
Specimen Collection and Handling
Collect Whole Blood in EDTA or Sodium Citrate Tube
24 hours when stored at room temperature (22-28 °C)
Samples should be stored at 2-8 °C if stored longer than 24 hours. Blood is stable up to 15 days when stored at 2-8 °C
Shared Specimen or add on not allowed