About our test for increased risk of blood clots when taking estrogen
Each year 15,000 - 20,000 people are diagnosed with deep venous thrombosis.
Venous thrombosis is a blood clot in a vein that fully or partially blocks the vessel. Most often it sits in a deep vein in one leg. The thrombus can break off and be transported to the lungs, where it blocks the vessel and causes lung embolism. Age is the strongest risk factor for venous thrombosis. Other acquired risk factors include smoking, obesity, diabetes, high blood pressure, estrogen-containing oral contraceptives, pregnancy and surgery, particularly major surgery. Among those afflicted by venous thrombosis at a young age there is often a hereditary factor.
We offer cooperative opportunities in which we tailor solutions for each customer. Our concept covers the entire chain from sampling kits and method of analysis to performing analysis and distribution of analytical results.
Our test is simple to perform. The CE-marked sampling kit contains sampling material, instructions and return packaging. You can take a cheek scrape sample yourself at home and then send it to our accredited laboratory for DNA analysis. The result of analysis is obtained via our website with a personal code, 5 days after the sample is received at our laboratory.
Background of our test
One of the most common hereditary risk factors for venous thrombosis is Factor V Leiden (Bertina 1994). This variant of Factor V involves a substitution G→A at position 1691 in the gene for factor V. This leads to the amino acid 506 in the protein Arg being replaced by Gln, a change which means that factor V is no longer disabled as effectively by protein C, known as APC resistance. This gene variant is found in 2-7% of the European population. Heterozygous carriers of factor V Leiden have 3-7 times higher risk of venous thrombosis than those who do not carry the gene. If you are homozygous carrier the risk of suffering from venous thrombosis is about 80 times higher.
Another variant that increases the risk of venous thrombosis is a polymorphism in the gene for prothrombin (Factor II), a substitution G→A in position 20210 upstream of the gene for prothrombin (Poort 1996). This gene variant leads to elevated levels of prothrombin. The A allele occurs in about 2% of the population worldwide. Heterozygous carriers of the mutation in prothrombin run 2-3 times higher risk of venous thrombosis.
Knowledge that you carry some risk variant may be important in relation to other risk factors, such as the significant increase in risk of venous thrombosis if carrying risk genes while taking estrogen-containing oral contraceptives. Heterozygous carriers of factor V Leiden in combination with estrogen-containing oral contraceptives run a 35 times higher risk of thrombosis. For heterozygous carriers, risk of venous thrombosis is increased to 16 times when taking combined oral contraceptives. In Sweden, health care professionals will give the following recommendations on choosing contraception if you carry factor V Leiden or the prothrombin mutation.
Unique method of analysis
The Dynamic Code test examines the genes of factor V and prothrombin that a person carries with a proprietary methodology. The methodology is based on PCR and respectively detects the A and G allele of the above SNPs in Factor V (rs6025) and prothrombin (rs1799963).
Information and price quotes
Contact us for more information about our test for risk of venous thrombosis and for potential collaboration.
Phone: +46 (0)13 465 53 20
Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994 May 5;369(6475):64-7.
Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood. 1996 Nov 15;88(10):3698-703.
Swedish Food and Drug Administration, Contraception – treatment recommendations, Information from the Swedish Food and Drug Administration 7:2005