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Deep Vein Thrombosis, Genetic Testing

Deep vein thrombosis (DVT) is a pathological condition characterized by the formation of blood clots in deep veins, often in the legs. Deep vein thrombosis can lead to severe complications, such as pulmonary embolism if a clot detaches and is transported to the lungs. Risk factors include immobility, surgery, and certain pathological conditions. Treatment includes anticoagulant drugs to prevent the development of clots and reduce the risk of complications. The assessment of the Polygenic Risk Score for deep vein thrombosis is based on the examination of 7 gene polymorphisms.

Genetic testing for deep vein thrombosis is included along with 14 other diseases in the Genetic Screening for Cardiovascular and Respiratory Diseases, Polygenic Risk Score.

Causes and non-genetic risk factors

Risk factors that can lead to clot formation include:

  • Bed rest or maintaining a static posture for a long time, such as on a long airplane trip.
  • Family history of blood clots.
  • Fractures in the pelvis or legs.
  • Having given birth in the last 6 months.
  • Pregnancy.
  • Obesity.
  • Recent surgery, especially hip or knee surgery.
  • Having an indwelling catheter in a blood vessel.
  • Some pathologies, such as polycythemia vera, some types of cancer, or autoimmune disorders.
  • Smoking.
  • Some medications, such as oral estrogens.

The disorder mainly affects the large veins of the lower extremities, although many people have no symptoms. Among the symptoms that may occur are:

  • Swelling of the leg (edema).
  • Pain in the leg that may only be felt when standing or walking.
  • More warmth in the area of the leg that is swollen or painful.
  • Redness or changes in skin color.

Occasionally, the symptoms that occur are associated with complications such as pulmonary embolism, a potentially serious condition characterized by shortness of breath and pain when taking a deep breath or coughing up blood.


Generally speaking, the most effective preventive measures include elevation of the legs, early mobilization, and anticoagulants. More specifically:

  • Starting to move as soon as possible after having been bedridden for a while following surgery or illness.
  • Use compression stockings if you are a person at risk.
  • Use of anticoagulant medications in people at higher risk.
  • On long journeys, get up and walk around every 1-2 hours, wear loose clothing, and keep your legs moving while sitting.
  • A healthy lifestyle includes maintaining a healthy weight, regular exercise, and a diet rich in fruit, vegetables, and whole grains.
Additional information
Results Time4 - 5 Weeks
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