Test Code LAB6127 Factor V Leiden (FVL) Mutation Detection
Performing Laboratory
Barnes-Jewish Hospital Laboratory
Methodology
This assay utilizes the Cepheid Xpert® FII & FV qualitative in vitro diagnostic genotyping test, as described in the FDA approved assay package insert, for the detection of Factor V alleles from sodium citrate or EDTA anticoagulated whole blood. This test is FDA approved for both Factor V and Factor II, however only the ordered test is analyzed and reported. This test is performed on the Cepheid GeneXpert® Dx System which automates and integrates sample purification, nucleic acid amplification, and detection of the target sequence in whole blood using real-time Polymerase Chain Reaction (PCR) assays based on Scorpion® PCR technology. Note: F5 (NM_000130.4):c.1601G>A, R534Q or Factor V Leiden is also referred to as c.1691G>A, p.R506Q in the literature.
Specimen Requirements
#LAB5032 Activated Protein C Resistance (APCR), Blood should be ordered first. Factor V Leiden should be used for confirmation of abnormally low APCR results.
Form: Molecular Diagnostics Requisition
Specimen Type: Whole blood
Container/Tube: Lavender-top (EDTA)
Specimen Volume: Full tube
Specimen Minimum Volume: 1-2 mL
Collection Instructions: Invert several times to mix blood. Clotted blood is not acceptable.
Additional Information: Specimen cannot be frozen.
Day(s) Test Set Up
Tuesday, Thursday
Turnaround Time:
STAT: Director approval required
Routine: 3 to 7 business days
Test Classification and CPT Coding
81241
Reference Values
An interpretive report will be provided.
Specimen Transport Temperature
Specimen should be sent at Ambient temperature or kept refrigerated
Specimen cannot be frozen
Additional Information
For BJH Laboratory Use Only
Alternate Tube:
1 blue-top (sodium citrate) tube
Analyte Stability:
Blood is stable 24 hours at ambient temperature, up to 15 days refrigerated.
Laboratory Processing Instructions:
Test performed in BJH Molecular Diagnostics.