Trombophilia DNA test
Thrombophilia DNA test
As part of the thrombophilia DNA test, GenEra laboratory tests the following positions of genome:
NM_000130.4(F5):c.1601G>A (p.Arg534Gln), rs6025 (c.1691G>A, FVL, Factor Leiden)
NM_000506.4(F2):c.*97G>A (Mutation of the 20210G> A prothrombin gene)
NM_005957.4(MTHFR):c.665C>T (p.Ala222Val), rs1801133 (MTHFR gene 677C>T polymorphism)
NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala), rs1801131 (MTHFR gene 1298A>C polymorphism)
NM_000602.4(SERPINE1):c.-820_-817G(4_5) (PAI-1 4G/5G)
What is thrombophilia?
Thrombophilia is an abnormal tendency of the body to develop thrombi. It is a group of diseases where the tendency to develop thrombi can be due to genetic factors, environmental factors, and the interaction between genes and the environment. Thrombophilia is associated with both the risk of venous and arterial thrombosis, yet the genetic risk factors for arterial thrombosis are less pronounced and therefore usually are not tested.
What can be the genetic cause of congenital thrombophilia?
Congenital mutations in genes the coded proteins of which are involved in blood clotting can cause thrombus formation. Most common causes of congenital venous thrombosis:
- the so-called Leiden mutation in c.1691G> A factor V coding gene F5 (rs6025);
- g. 20210G> A mutation in factor II coding gene F2 (rs1799963).
Leiden V mutation in Factor V coding gene F5
In Caucasian race, the incidence of this mutation is 3–8 %. Among patients with thromboses, the incidence of mutation is 20–25 %. In case of Leiden V mutation, increased protein C resistance is possible, which is one of the causes of thrombosis.
c. 20210G> A mutation in Factor II coding gene F2;
In Caucasian race, the incidence of this mutation is 2–3 %. Among patients with thromboses, the incidence of mutation is 4–8 %. In case of mutation, the prothrombin level in body is increased, and it may contribute to the formation of thrombin and of fibrinous thrombi. Type of inheritance: autosomal dominant in both positions.
It is important that patients understand that the presence of the above-mentioned mutations in gene F5 or F2 does not necessarily mean that thrombosis will develop during the lifetime. The presence of these mutations in the genome only increases the risk of thromboses.