Laboratory Services

Factor V DNA Screen

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Updated Test Information:

Test Description
Factor V DNA Screen

UOW1681, F5DNA, APC CoFactor-DNA, DNA-Factor V, Factor 5 DNA Screen, Factor 5 Leiden, Factor V Leiden, Factor V PCR,

Test ID
General Information

The factor V Leiden variant (HGVS nomenclature NM_000130.4 c.1691G>A p.R534Q; legacy nomenclature R506Q, p.Arg506Gln, 1691G>A) in the factor V gene (F5) is present in approximately 3% of the general population, and in about 20-50% of patients with a history of unexplained recurrent venous thrombosis. The presence of a glutamine instead of an arginine residue removes a site in factor V that is normally cleaved by activated protein C, and is associated with resistance to activated protein C. Presence of this polymorphism substantially increases the lifetime risk of venous thrombosis. This test detects the underlying defect present in almost all cases of resistance to activated protein C.

Indications for testing include:
Evaluation of recurrent or familial venous thrombosis
Carrier testing in family already known to carry the factor V Leiden mutation
Evaluation of recurrent pregnancy loss

Container Type

Adult: 3 mL LAVENDER TOP tube
Child: 2 mL LAVENDER TOP tube

Specimen Type

Whole blood

Specimen Requirements

Entire tube

Specimen Collection / Processing Instructions

Ship whole blood at ambient temperature to arrive within 1 week of specimen collection.

Minimum Sample Volume

1mL whole blood


Ambient: 7 days

Unacceptable Specimen Conditions

Heparin green top tubes


Next-generation sequencing

Estimated TAT

Within 2 weeks

Testing Schedule

Test performed weekly

CPT Code(s)


Reference Range

No mutations detected

STAT Orderable (Y/N)


Performing Lab

University of Washington

LOINC Code(s)


Additional Information

Genetics requisition form: HERE