DNA Thrombotic Risk Test

What is thrombosis?
Thrombosis is the formation of a blood clot inside a blood vessel, preventing the flow of blood through the circulatory system. Deep vein thrombosis (DVT) is the most common form of venous thrombosis (blood clot). DVT refers to a clot in a deep vein and often happens in the leg. Symptoms in the affected area include pain, swelling, redness and warmth. A physician should be consulted if a DVT is suspected, as sometimes the clot may break loose and travel to other parts of the body, where it can cause serious complications.

If the clot travels to the lungs, it can block essential blood vessels and is a life-threatening complication, known as a pulmonary embolism. Symptoms include a sudden shortness of breath, chest pain, coughing up blood-streaked mucus and a rapid heartbeat. If the clot travels to the brain, it is also extremely dangerous and can potentially cause a cerebral venous thrombosis. Symptoms can include impaired speech, difficulty moving parts of the body, vision problems and severe headaches.

What factors increase the risk of a blood clot?
A combination of environmental, lifestyle and genetic factors affect thrombotic risk:

  • Genetic mutations in the F5, F2 and MTHFR genes
  • Lack of mobility
  • Smoking
  • Obesity
  • Pregnancy
  • Hormone changes – e.g. contraceptive pill
  • Age – elderly have an increased risk
  • Surgery or injury
  • Infections, inflammatory disease, diabetes

This test detects mutations in the F5, F2 and MTHFR genes that are associated with an increased thrombotic risk.

Reducing the risk of a blood clot
There are several ways to reduce thrombotic risk:

  • Maintain a healthy body weight
  • Follow a healthy diet
  • Increase blood flow through physical exercise
  • Avoid extended periods of immobility
  • Avoid smoking
  • Reduce homocysteine levels by obtaining plenty of folate and other B vitamins
  • Wear compression stocking on long plane journeys
  • Seek medical treatment (e.g. anticoagulants) for very high risk individuals

Genetics of thrombotic risk
Genetic changes in three genes are analyzed in this thrombotic risk test, with each change contributing to an increased risk of thrombosis:

  • F5 – the Factor V Leiden mutation (1691G>A)
  • F2 – the prothrombin mutation (20210G>A)
  • MTHFR – two mutations (677C>T and 1298A>C)

These three genes are all located on autosomal chromosomes – F5 and MTHFR on chromosome one and F2 on chromosome eleven. We inherit two copies of each of our autosomal genes – one from each parent. Therefore we can inherit two normal copies of a gene (homozygous normal), or two copies that carry a genetic mutation (homozygous mutant), or one normal copy and one mutated copy (heterozygous). This means that we can inherit several different combinations of the F5, F2 and MTHFR genes, and each combination is associated with a different risk of thrombophilia.

Patient Genotype Thrombotic Risk
Factor V Leiden mutation (heterozygous 1691G>A) in the F5 gene 3X to 8X increased risk of thrombosis 2X to 11X increased risk of miscarriage
Factor V Leiden mutation (homozygous 1691G>A) in the F5 gene 10X to 80X increased risk of thrombosis 2X to 11X increased risk of miscarriage
Prothrombin mutation (heterozygous 20210G>A) in the F2 gene 2X to 5X increased risk of thrombosis 2X to 3X increased risk of miscarriage
Prothrombin mutation (homozygous 20210G>A) in the F2 gene >5X increased risk of thrombosis 2X to 3X increased risk of miscarriage
Mutation (homozygous 677C>T) in the MTHFR gene Increased risk of thrombosis if folate levels are low
Two mutations (677C>T and 1298A>C) in the MTHFR gene Increased risk of thrombosis if folate levels are low

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