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Diagnostic Services

Genetics Lab

Factor V Leiden Mutation Analysis

The factor V Leiden mutation is the most common cause of activated protein C (APC) resistance, and most common genetic risk factor for thrombosis. Approximately 3-8% of the population is heterozygous, and have an estimated 5-10 fold increased risk of thrombosis. Homozygotes have a 50-100 fold increased risk.

Test Name: Factor V Leiden (p.R506Q)
Test Code:
FV LEIDEN
Test Description:
Analysis of the F5 gene for the Leiden (R506Q) mutation.
Synonyms:
FVL, thrombosis, APC resistance
Indication:
This test is indicated for:
-Individuals with family history of the Factor V Leiden mutation
-Individuals with a history of venous thromboembolism (VTE) as part of thrombophilia work up
Related Tests: Methylene Tetrahydrofolate Reductase, (677C>T, 1298A>C)  
Analysis of the MTHFR gene for 677C>T and 1298A>C variants.

Prothrombin variant (Factor II), mutation analysis (20210G>A)  
Analysis of the F2 gene for the 20210G>A mutation.

Thrombosis Risk Panel  

Clinical Links: Factor V Leiden Thrombophilia GeneReview
Availability:
Available weekly
Turnaround Time:
1 week
Methodology:
PCR
Reference Range:
Interpretive report provided
Requisition:
Molecular.pdf
Consent Form:
Sample Requirements: Type
Blood: 1-3 ml EDTA (purple) tube.
DNA: 5ug extracted DNA

Processing
Keep at room temperature

Shipping
Ship overnight at room temperature. Blood sample must be received within 3 days of collection
Samples Received:
Monday - Friday 8am - 5pm PST
Special Considerations:
Note that this test can be ordered individually or as part of a thrombosis risk panel that includes prothrombin 20210G>A, and MTHFR thermolabile variants.
Cost:
Please e-mail Lab Client Services (labclientservices@seattlechildrens.org) or call at 206-987-2617 with any billing questions
CPT Code:
Please e-mail Lab Client Services (labclientservices@seattlechildrens.org) or call at 206-987-2617 with any billing questions