The assay covers the following 9 mutations
FV G1691A (Leiden)
FV H1299R (R2)
Factor XIII V34L
Factor V (FV): FV Leiden (G1691A; R506Q): leads to activated protein C resistance; occurs in 20-50% of patients with VTE; represents one of the most important genetic risk factors for inherited thrombophilia. FV R2 haplotype (H1299R): mild risk factor for thrombosis; increases CVD risk for carriers of FV Leiden. Prothrombin (PTH; Factor II) G20210A: the A allele is associated with increased prothrombin levels; carriers have about 3-fold elevated risk for cerebral and deep vein thrombosis; risk significantly increases in combination with FV Leiden. 5,10-Methylenetetrahydrofolate Reductase (MTHFR): MTHFR C677T: the thermolabile variant (T allele) is associated with reduced enzyme activity and elevated plasma homocysteine levels in conjunction with folate deficiency; homozygosity predisposes to arterial and venous thrombosis in the presence of additional risk factors. MTHFR A1298C: compound heterozygosity with C677T is also associated with reduced MTHFR enzyme activity. Factor XIII (FXIII) V34L: the L variant has generally been assigned a protective effect against VTE. Plasminogen Activator Inhibitor 1 (PAI-1, Serpin E1) 4G/5G: the 4G allele is associated with higher PAI-1 transcription rates and considered to be a mild risk factor for VTE and MI. Endothelial Protein C Receptor (EPCR): EPCR 4600 A>G (A3 haplotype): carriers of A3 show higher soluble EPCR plasma levels and are predisposed to VTE and fetal loss. EPCR 4678 G>C (A1 haplotype): homozygous A1 exerts a protective effect in carriers of FV Leiden.