Congenital thrombophilias – DNA testing
Thrombophilia – symptoms and method of diagnosis
Thrombophilia is a congenital (genetic) or acquired (immunological) condition in which the blood shows an increased tendency to form blood clots. In the bloodstream, clots can clog a blood vessel and compromise the health of the mother, or clog the arterioles of the placenta and disrupt fetal development.
Both genetically inherited and acquired thrombophilias are common and affect over 15% of the population, as inherited mutations in the genome have been linked to the development of the condition. The most common mutations are those that affect factor V Leiden of blood clotting. These are located in the promoter region of the prothrombin gene.
Other common mutations are those in the gene for methylene tetrahydrofolate reductase – MTFHR. These genetic disorders are associated with a moderate risk of developing thrombosis and it is not yet fully established whether homozygous carriers of mutations in the MTHFR gene are associated with any cardiovascular risk. However, more pronounced deficiencies of clotting factors and more severe forms of thrombophilia, such as those associated with factor S and antithrombin deficiency, are less common.
The potential link between recurrent miscarriages and hereditary thrombophilias is based on the assumption that impaired placental development and function are due to venous or arterial thromboses. Studies have shown that maternal blood begins to circulate in the intravillous spaces of the placenta by the 10th gestational week. Therefore, acceptance of thrombophilia as a potential cause of spontaneous abortion after the 10th week is more likely than its occurrence before the 10th gestational week.
When to get tested?
Doctors do not recommend that all women get tested for thrombophilia. Testing should be done in those with three or more miscarriages by the 10th week of pregnancy, or after failed embryo transfer by IVF, in severe complications (placental abruption, fetal growth retardation, pre-eclampsia). Testing for thrombophilia should also be done when a close relative suffers from thrombosis, or other factors have been identified that increase the likelihood of the condition occurring.
What to treat with?
If the diagnosis of thrombophilia is confirmed, the expectant mother needs treatment with low molecular weight heparins.
Therapy is strictly specific and includes the intake of additional amounts of folic acid in patients with hyperhomocysteinemia, prophylactic anticoagulant therapy in patients with single genetic disorders and those who have no family history of thrombotic complications. Anticoagulant therapy is also administered in cases of combined genetic defects associated with more severe forms of thrombophilia.
Package “DNA analysis for congenital thrombophilias” – price 210 BGN.
- Factor V (Leiden 1691 G>A)
- Factor V (Liverpool 1250 T>C )
- Factor V (Cambrige 1091 G>C)
- Factor V (Hong Kong 1090 A>G)
- Factor II /prothrombin/ (20210 G>A)
- PAI – plasminogen activator inhibitor (4G/5G)
- MTHFR (677 C>T)
- MTHFR (1298 A>C)
Extended package “DNA analysis for congenital thrombophilias” – price BGN 320.
- Factor V (Leiden 1691 G>A)
- Factor V (H1299R (R2))
- Factor II /prothrombin/ (20210 G>A)
- β-Fibrinogen (455G>A)
- MTHFR (677 C>T)
- MTHFR (1298 A>C)
- GP IIIa (HPA-1) – L33P
- ApoB – R3500Q
- ApoE – codon 112 and codon 158
- Factor II /prothrombin/ (20210 G>A)
- Factor XIII (V34L)
- ACE – I/D
- PAI – plasminogen activator inhibitor (4G/5G)
Results will be received UP TO 5 business days after submission.
An additional sampling fee is payable.
