Test Code LAB6150 F5 (FVL) and F2 (Prothrombin) Mutations
Performing Laboratory
Barnes-Jewish Hospital Molecular Diagnostic 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 (F5) and Prothrombin (F2) alleles from sodium citrate or EDTA anticoagulated whole blood. 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. F2 (NM_000506.3):c.*97G>A is also referred to as G20210A and g.20210G>A in the literature.
Specimen Requirements
Form: Molecular Diagnostics Requisition
Specimen Type: Whole blood
Container/Tube: Lavender-top (EDTA)
Specimen Volume: 1 -2 mL
Specimen Minimum Volume: 0.5 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
Reference Values
An interpretive report will be provided.
Test Classifications and CPT Coding
81240 - F2 (prothrombin, coagulation factor II), (eg, hereditary hypercoagulability) gene analysis, 20210G>A variant
81241 - F5 (coagulation factor V), (eg, hereditary hypercoagulability) gene analysis, Leiden variant
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.
Specimen Transport Temperature
Specimen should be sent at Ambient temperature or kept refrigerated
Specimen cannot be frozen