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.
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.
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