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Prothrombin (Factor II) Mutation Analysis

The common F2 c.20210G>A mutation is associated with elevated prothrombin levels, which promotes development of fibrin clots. 2-4 % of the population is heterozygous for this mutation. Heterozygotes may have an estimated 3-11 fold increased risk of thrombosis. The risk of recurrence venous thrombosis recurrence is higher in individuals who also carry other thrombosis risk factors.

Test Name: Prothrombin variant (Factor II), mutation analysis (20210G>A)
Test Code:
PTV DNA
Test Description:
Analysis of the F2 gene for the 20210G>A mutation.
Synonyms:
PTV, prothrombin, thrombosis, F2
Indication:
This test is indicated for:
-Individuals with family history of the prothrombin 20210G>A 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 the thermolabile variants.

Factor V Leiden (p.R506Q)  
Analysis of the Factor V gene for the Leiden (R506Q) mutation.

Thrombosis Risk Panel  
Factor V Leiden, MTHFR Thermolabile Variants, Prothrombin 20210G>A.

Clinical Links: Prothrombin Thrombophilia
Availability:
Available weekly
Turnaround Time:
1 week
Methodology:
PCR
Reference Range:
Interpretive report provided
Requisition:
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 factor V Leiden, 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