What is Factor II Prpthrombin G20210A Mutation Analysis?
Also Known As: Factor II G20210A Mutation, FII gene analysis. G 20210 A
Intended use:
It is needed during investigations to determine the cause in cases of venous thromboembolism and recurrent miscarriage, which require clinical investigation of the possibility of thrombophilia.
General Information:
Prothrombin is the precursor of thrombin, which converts fibrinogen to fibrin. A mutation in the gene encoding prothrombin synthesis causes an increase in the concentration of prothrombin in the circulation and thus an increase in the tendency to thrombosis. Prothrombin gene mutation is an automosal recessive inherited mutation that occurs as a result of 20210G>A substitution in the prothrombin gene. It is reported that the rate of those carrying this mutation as heterozygous in the European population is around +1-2.
Comment of test result:
Thrombophilia tendency increases 2-5 times in heterozygotes. The use of oral contraceptives causes the risk to increase to a level of up to 16 times. It is known that the use of oral contraceptives increases the risk of cerebral venous sinus thrombosis. There is an increased risk of venous thromboembolism during pregnancy. The risk is much higher in those who carry the mutation as homozygous. Thrombophilia tendency increases much more in cases of concomitant protein C, protein S or antithrombin III deficiency or the presence of factor V Leiden mutation.
Prothrombin gene mutation causes a marked increase in the incidence of venous thrombosis events. Deep vein thrombosis, superficial thrombophlebitis, pulmonary embolism, sinus vein thrombosis, mesenteric vein thrombosis, Budd-Chiari syndrome, are diseases frequently seen in patients with prothrombin gene mutation. Although not as common as venous thrombosis, it has been reported that the risk of diseases related to arterial thrombosis such as stroke and heart attack increases in people with prothrombin gene mutations. For this reason, it is recommended that those who carry this mutation should be more careful about protection from risk factors such as smoking, high blood pressure, high cholesterol and obesity. In addition to stillbirth and recurrent miscarriages, pregnancy complications such as preeclampsia and eclampsia are more common in women carrying this mutation.
Sample:
EDTA whole blood (purple capped tube) min. 5ml.
Working Method:
PCR
Reference value:
Homozygous normal individuals are reported as “N/N = homozygous normal”.
Heterozygous individuals are reported as the result “Mt/N = homozygous”.
Homozygous mutants are reported as “Mt/Mt = homozygous mutant”.
G 20210 A Test
G20210A Test
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