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Factor V Leiden Mutation Analysis

Factor V Leiden mutation analysis is a genetic test that identifies a mutation in the Factor V gene linked to an increased risk of abnormal blood clots. It is essential for individuals with a family history of thrombosis, guiding prevention and treatment strategies. This analysis helps healthcare providers manage care and reduce the risk of serious clotting complications.

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What are Factor V Leiden?

​​Factor V Leiden is a genetic mutation that affects the Factor V protein, which plays a crucial role in blood clotting. This mutation can lead to an increased risk of developing abnormal blood clots, a condition known as thrombophilia. Individuals with Factor V Leiden may experience serious complications, such as deep vein thrombosis (DVT) or pulmonary embolism (PE), especially if there is a family history of clotting disorders. Understanding this condition is essential for those at risk, as it allows for appropriate preventive measures and treatment options to manage and reduce the likelihood of blood clotting events. Awareness and early detection can significantly impact health outcomes and enhance quality of life.

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Genetic Testing

The analysis detects a specific mutation in the Factor V gene (G1691A), which predisposes individuals to thrombotic events.

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Risk Assessment

It helps assess an individual’s risk of developing abnormal blood clots, particularly in those with a personal or family history of thrombosis.

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Clinical Utility

The results guide healthcare providers in making informed decisions about anticoagulation therapy, pregnancy management, and other preventive measures.

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Relevance to Thrombophilia

Factor V Leiden is a common inherited thrombophilia, essential for managing clotting disorders.

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Family Screening

Positive results often lead to genetic counseling and family member testing, as the mutation can be inherited.

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Specimen Collection Instructions

Sample type:

Extracted DNA

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Sample Requirement:

  • Concentration: > 10 ng/uL

  • Volume: At least 20 uL

  • Storage buffer: Tris-EDTA (TE) or ultra-pure DNase-free and RNase-free water

 

Saliva

Sample Requirement:

  • The sample must be collected using the Oragene® ⋅Dx OGD-510 DNA Saliva Collection Tube.

  • Saliva collection should follow the instructions provided in the user guide.

  • Volume: Above the fill line.
    (Collection instructions sourced from the official DNA Genotek website:     DNA Genotek – Oragene® ⋅Dx Collection Instructions)

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Collection Precautions:

  • Do NOT eat, drinks, smoke or chew gum for 30 minutes before sample collection.

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Shipping Instructions:

DNA and saliva specimens should be shipped overnight at room temperature. If the weather is hot or shipping may exceed overnight, include cold packs to ensure sample integrity. The laboratory accepts packages Monday through Friday from 9:00 AM to 5:00 PM.

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Turnaround Time (TAT):​

  • 3 Business Days (Mon-Fri)

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