Test Overview
Test Methodology

Allelic Discrimination, Polymerase Chain Reaction (PCR)

Test Usage

Activated protein C (APC), a serine protease, limits clot formation by proteolytic inactivation of factor Va (and VIIIa). Resistance of FVa to degradation by APC is associated with an increased risk of venous thromboemobolism (VTE). This resistance is caused by a specific point mutation in the gene coding for the coagulation factor V (F5 c.1601G>A; rs6025; g.169549811C>T; NC_000001.11; NM_000130.4; previously designated c.1691G>A) which results in the replacement of amino acid Arg 534 (CGA) by Gln (CAA) (F5 R534Q; previously designated R506Q R506Q Leiden). This amino acid substitution prevents inactivation of factor Va by APC. Other genetic as well as environmental factors may also influence the risk of thrombosis. Genetic counseling may be indicated.

Reference Range *

Interpretive report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Test Details
Days Set Up
*Due to COVID-19 testing the analytical time for this assay has changed to 2 - 14 days. The assay will now be performed once every two weeks instead of weekly.
Analytic Time

2 - 14 days

Soft Order Code
MiChart Code
Factor V Leiden Mutation
  • Activated Protein C Resistance by DNA Analysis
  • Factor 5 Leiden
  • Factor 5 Leiden Mutation Detection
  • Factor V Leiden by DNA Analysis
  • F5 Gene Mutation Detection
  • Factor V Mutation Study
  • Factor V Q506 Leiden
  • FACV
  • Factor V Leiden Mutation
Molecular Diagnostics
Molecular Diagnostics
Specimen Requirements
Collection Instructions

Collect blood in a lavender top tube. Refrigerate and send intact blood within 48 hours of collection.

Special Handling

To reduce inappropriate thrombophilia testing in the inpatient population this test has been removed from the inpatient test catalog. If there is a specific clinical need for this test on an inpatient please contact the Coagulation Laboratory.

Alternate Specimen
The preferred specimen is whole blood collected in EDTA (lavender top). However, ACD (yellow top) and heparin (green top) may also be accepted.
In the absence of specific information regarding advances in the knowledge of mutation characteristics for a particular disorder, the current literature indicates that genetic tests for inherited disease need only be conducted once per lifetime.
Normal Volume
5 mL EDTA (lavender) whole blood
Additional Information

By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes pathologist interpretation of results billed as a separate additional charge. This test is not available without interpretation.

CPT Code
Fee Code
Pro Fee CPT
NY State Approved