Laboratory:
Molecular Diagnostics
Referral Laboratory:
MiChart Name:
Factor V Leiden Mutation
MiChart Codes:
LAB8879
Soft Order Code:
FVMT
Synonyms:
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
Container:
Lavender top tube
Normal Volume:
5 mL EDTA (lavender) whole blood
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.
Offsite Collection:
Collect blood in a lavender top tube. Refrigerate and send intact blood within 48 hours of collection.
Onsite Collection (Michigan Medicine Hospitals Only):
Collect blood in a lavender top tube. Refrigerate and send intact blood specimen within 48 hours of collection.
Analytic Time:
3 - 14 days
Reference Range:
*Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Interpretive report provided.
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.
Contraindications:
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.
Test Methodology:
Allelic Discrimination, Polymerase Chain Reaction (PCR)
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.
LOINC:
21668-9
CPT Code:
81241
Fee Code:
21664
Pro Fee CPT:
G0452-26
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.
Test ID:
403