Prothrombin Mutation (Factor II)

(Prevalence: 2-4% of the population)

Factor II (prothrombin) is a protein produced by the liver to help the blood clot when needed, but people who have a mutation in this gene produce more prothrombin than is normal, leading to an increased propensity for blood clots. This genetic test identifies individuals with defects in this clotting factor, which can assist the medical provider in determining which patients need more aggressive thrombosis prevention measures. Such therapy can prevent life-threatening clots, especially those that travel from veins in the legs (called a deep vein thrombosis or DVT) to the lungs (called a pulmonary embolism or PE).

Prothrombin Mutation Testing

Women who carry a Prothrombin mutation have a 16-fold increased risk of developing a blood clot when taking estrogen-containing oral contraceptives. And though smoking will exacerbate the risk of developing a blood clot in any patient, that risk is multiplied in patients with a Prothrombin mutation.

In order to lower the risk of developing a blood clot, patients need to stay hydrated and remain mobile. Long periods of inactivity can exacerbate risk, so when faced with long car rides, trans-continental flights, or illnesses that confine one to the bed, patients should make an effort to get up and walk around every couple of hours (or at least consider wearing compression stockings during these times to aid circulation). These patients may also benefit from daily aspirin therapy.

Patients with this gene variant should notify all of their medical providers that they are carriers (particularly if they are pregnant or about to have surgery), because more aggressive anticoagulant therapy and monitoring may be necessary in certain circumstances.

Read more about Prothrombin Mutation HERE

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Advanced Genetic Tests

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9P21
A gene that can identify individuals who may be at an increased risk of premature heart disease.

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4Q25
A gene that can identify who is at increased risk of developing atrial fibrillation (a potentially dangerous arrhythmia of the heart).

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Prothrombin Mutation
A gene that increases the risk of developing blood clots

Prothrombin Mutation

Factor V Leiden
A gene that increases the risk of developing blood clots

Factor V Leiden

CYP2C19
A gene that determines if the blood thinner Plavix is metabolized normally, or whether this medication could lead to increased clotting or bleeding.

CYP2C19

Advanced Genetic Tests

Click Below to Learn More

APO E
A gene that affects the way our body processes fat and alcohol, sometimes referred to as the "Alzheimer’s gene."

APO E

MTHFR
A gene that affect the body’s ability to detoxify and utilize certain B vitamins (which affect brain, heart, and infant health).

MTHFR

SLOCO1B1
A gene that can identify who is at increased risk of having side effects from statin cholesterol drugs.

SLOCO1B1

KIF 6
A gene that increases the risk of heart disease, but can determine who would particularly benefit from statin cholesterol medications

KIF 6

9P21
A gene that can identify individuals who may be at an increased risk of premature heart disease.

9P21

4Q25
A gene that can identify who is at increased risk of developing atrial fibrillation (a potentially dangerous arrhythmia of the heart).

4Q25

Prothrombin Mutation
A gene that increases the risk of developing blood clots

Prothrombin Mutation

Factor V Leiden
A gene that increases the risk of developing blood clots

Factor V Leiden

CYP2C19
A gene that determines if the blood thinner Plavix is metabolized normally, or whether this medication could lead to increased clotting or bleeding.

CYP2C19

REFERENCES

1 – DeStefano V, Rossi E. Testing for inherited thrombophilia and consequences for antithrombotic prophylaxis in patients with venous thromboembolism and their relatives. Thromb Haemost. 2013 Oct;110(4):697-705.