Factor V (Leiden) Mutation Analysis

The Factor V (Leiden) Mutation Analysis test contains 1 test with 3 biomarkers.

Brief Description: The Factor V (Leiden) Mutation Analysis test is a specialized genetic test used to identify the presence of a specific mutation in the factor V gene. This mutation is associated with an increased risk of developing abnormal blood clots in veins, a condition known as venous thromboembolism.

Collection Method: Blood Draw

Specimen Type: Serum

Test Preparation: No preparation required

When and Why a Factor V (Leiden) Mutation Analysis Test May Be Ordered

A physician might order the Factor V (Leiden) Mutation Analysis test:

• Family History: In individuals who have a family history of unexplained blood clots or venous thromboembolism.

• Unexplained Blood Clots: Especially in younger individuals or those without obvious risk factors for clotting.

• Recurrent Miscarriages: Some women with the mutation may experience recurrent miscarriages.

• Before Prescribing Certain Medications: Such as oral contraceptives or hormone replacement therapy, especially if there's a known family history of the mutation or thrombotic events.

What the Factor V (Leiden) Mutation Analysis Test Checks For

This test specifically checks for a mutation in the factor V gene. The mutation causes a specific change in the factor V protein, making it resistant to a molecule called activated protein C (APC). APC usually helps prevent blood from clotting too easily, so this resistance results in a higher risk of clot formation.

Other Lab Tests Ordered Alongside the Factor V (Leiden) Mutation Analysis Test

• Prothrombin Gene Mutation Test: This checks for another genetic mutation associated with increased blood clot risks.

• Activated Protein C Resistance Test: This is a functional test to see how the blood responds to activated protein C. If it shows resistance, it can suggest the presence of the Factor V Leiden mutation, leading to the specific genetic test to confirm.

• Lupus Anticoagulant and Anticardiolipin Antibodies: These tests are ordered to determine the presence of other potential causes for clotting disorders, especially in cases of recurrent miscarriages.

Conditions or Diseases that Require a Factor V (Leiden) Mutation Analysis Test

• Venous Thromboembolism (VTE): This includes deep vein thrombosis (DVT), where clots form deep in the legs, and pulmonary embolism (PE), where a clot travels to the lungs.

• Recurrent Miscarriages: In some cases, abnormal clotting may be a reason for recurrent miscarriages.

Usage of Factor V (Leiden) Mutation Analysis Test Results by Health Care Providers

Healthcare providers use the results of the Factor V (Leiden) Mutation Analysis test to:

• Risk Assessment: Determine the risk of developing blood clots in those individuals who have a family history of clotting disorders or who have experienced unexplained blood clots.

• Guide Treatment: If the mutation is found, individuals may be advised to avoid certain medications that can further increase the risk of clotting. Additionally, they might be prescribed anticoagulant medications if deemed at high risk.

• Counseling: Provide genetic counseling regarding the implications of the mutation and the potential risks to offspring.

In conclusion, the Factor V (Leiden) Mutation Analysis test is an essential tool for identifying individuals at increased risk for venous thromboembolism. Understanding one's genetic predisposition can guide preventive measures and treatments to manage and reduce the risks associated with this mutation.

Most Common Questions About the Factor V (Leiden) Mutation Analysis test:

Purpose and Indications of the Factor V (Leiden) Mutation Analysis Test

What is the purpose of the Factor V (Leiden) Mutation Analysis test?

The Factor V (Leiden) Mutation Analysis test is designed to identify the presence of a specific mutation in the F5 gene, which is associated with an increased risk of developing abnormal blood clots in veins, a condition known as venous thromboembolism.

Why might someone be recommended to take the Factor V (Leiden) Mutation Analysis test?

Individuals might be recommended to take this test if they have a personal or family history of multiple unexplained blood clots or if they've experienced abnormal blood clotting at a young age. It can help determine if they carry the mutation that puts them at an increased risk.

Interpreting the Results

What do the results of the Factor V (Leiden) Mutation Analysis test indicate?

If the test is positive, it means that the individual has one or two copies of the Factor V Leiden mutation, putting them at a higher risk for blood clots. A negative result means that the individual does not have the mutation and their risk of blood clotting is based on other factors.

What's the difference between being homozygous and heterozygous for the Factor V Leiden mutation based on the test results?

Being homozygous means that an individual has two copies (one from each parent) of the Factor V Leiden mutation, which significantly increases their risk of blood clotting. Being heterozygous means the person has only one copy of the mutation and their risk is elevated, but not as much as if they were homozygous.

Implications and Management

If an individual tests positive for the Factor V (Leiden) Mutation Analysis test, how might their medical management change?

If someone tests positive, especially if they have a history of blood clots or other risk factors, their healthcare provider might recommend preventive measures. These could include avoiding long periods of immobility, using compression stockings, or taking anticoagulant medications during high-risk situations like surgery or long flights.

Is it advisable for family members to get tested if one member is positive for the Factor V (Leiden) Mutation Analysis test?

Yes, since the Factor V Leiden mutation is inherited, if one family member tests positive, it may be advisable for other family members, especially first-degree relatives like siblings or children, to consider testing. This can help them understand their own risk and take preventive measures if necessary.

Test Mechanisms and Specifics

Are there conditions or other genetic factors that might coexist and increase the risk of blood clotting in someone positive for the Factor V (Leiden) Mutation Analysis test?

Yes, there are other genetic mutations and conditions, like the prothrombin G20210A mutation, that can increase the risk of clotting. If someone has both Factor V Leiden and another clotting risk factor, their overall risk is compounded and significantly higher than having just one risk factor alone.

How does the Factor V (Leiden) Mutation Analysis test differ from other tests that evaluate clotting risk?

The Factor V (Leiden) Mutation Analysis test specifically looks for a genetic mutation in the F5 gene. Other tests might assess the function of the clotting system, measure specific clotting factors, or look for other genetic mutations associated with clotting disorders. It's important to understand that while the Factor V Leiden test provides valuable information, a comprehensive evaluation of clotting risk might involve multiple tests.

Additional Information

Is the Factor V (Leiden) Mutation Analysis test used for any other purposes apart from assessing clotting risk?

Primarily, the test is used to assess clotting risk. However, it might also be considered in cases of recurrent miscarriage as women with the Factor V Leiden mutation may have a slightly increased risk of pregnancy loss, although the evidence is not conclusive.

What other factors, apart from the Factor V (Leiden) mutation, can contribute to an increased risk of blood clots?

Several factors can increase the risk of blood clots, including prolonged immobility, surgery, certain medications (like hormone replacement therapy or oral contraceptives), pregnancy, obesity, smoking, cancer, and other inherited or acquired clotting disorders. It's essential to consider the full clinical picture when assessing an individual's risk.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.