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Factor V DNA Screen

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Updated Test Information:

Test Description
Factor V DNA Screen
Synonym(s)

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

Ambient: 7 days
Unacceptable Specimen Conditions

Heparin green top tubes
Methodology

Next-generation sequencing
Estimated TAT

Within 2 weeks
Testing Schedule

Test performed weekly
CPT Code(s)

81241
Reference Range

No mutations detected
STAT Orderable (Y/N)

N
Performing Lab

University of Washington
LOINC Code(s)

21667-1
Additional Information

Genetics requisition form: HERE