Factor V Leiden mutation
Factor V Leiden mutation
Factor V Leiden mutation test is a diagnostic tool used to detect a genetic mutation (activated protein C resistance and the prothrombin 20210 (PT 20210) gene, that increases the risk of developing abnormal blood clots, known as thrombophilia. This mutation affects the Factor V protein, a key component in blood clotting. Individuals with this mutation have an increased risk of venous thromboembolism (VTE), including deep vein thrombosis (DVT) and pulmonary embolism (PE).
Thus, getting this test done is recommended to diagnose Factor V Leiden, a common genetic mutation that can lead to abnormal blood clots.
Symptoms of blood clots
A few common symptoms of blood clots include:
Chest pain
Shortness of breath
Seizures
Headaches
A cough that produces bloody sputum
Rapid heartbeat
Who should get tested?
Factor V Leiden mutation test is requested when there is a suspicion that an individual may have a hereditary predisposition to blood clots, such as when an individual has:
Experienced first deep venous thrombosis (DVT) before age 50
A blood clot in an unusual part of the body
Has a personal or family history of recurrent DVT or VTE
First VTE related to usage of oral contraceptives or hormone replacement therapy (HRT)
Experienced unexplained miscarriages, in the second or third trimesters of pregnancy
Preparation for the test
No special preparations are required to undergo the Factor V Leiden mutation test. Please tell your healthcare provider if you are taking any prescription or non-prescription medicines such as ayurvedic or herbal drugs.
Interpretation of test results
If your test results indicate the presence of activated protein C resistance and the prothrombin 20210 (PT 20210) gene, it suggests the presence of Factor V Leiden in your bloodstream.
If your report shows two copies of the PT 20210 gene, it indicates a homozygous condition (both parents have this genetic condition), which poses a higher risk of thrombosis.
FAQs
How is the sample collected for the factor V Leiden mutation?
During this blood test, a healthcare professional will take a small amount of blood from a vein in your arm using a small needle, which is collected in a test tube or vial. This procedure takes no longer than five minutes.
What are the risks involved in the factor V Leiden mutation test?
This test involves negligible risk. During the blood test, one may experience minor pain or bruising where the needle was inserted, but most symptoms will subside quickly.
How long should I wait for the factor V Leiden mutation test results?
Factor V Leiden mutation test result is usually available within 4-5 working days after sample collection. This duration may vary depending on the diagnostic clinic.
What might affect the factor V Leiden mutation test result?
Anticoagulant therapy (warfarin), recent blood transfusions, pregnancy, liver disease, and certain medications such as hormonal contraceptives can affect the Factor V Leiden mutation test results. Additionally, timing concerning thrombotic events, genetic variations, and technical errors in testing can influence accuracy
Should I be concerned if my factor V Leiden mutation test result is abnormal?
If your Factor V Leiden mutation test result is abnormal, a follow-up test to confirm the results will be performed within a few weeks. Your healthcare provider will consider your medical history, symptoms, and other factors to make a diagnosis and may order additional tests to confirm the Factor V Leiden mutations.
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