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Test Code 76479998 Factor V Leiden (FVL) Mutation Detection

Performing Laboratory

Barnes-Jewish Hospital Laboratory

Methodology

The assay utilizes the Invader Plus® chemistry manufactured by Hologic for the detection of the FVL(F5) c.1601G>A, R506Q mutation in genomic DNA (NM_000130.4 transcript isoform). Invader and allele-specific probes match the mutant and the wild-type alleles and have overlapping 5’-ends that are cleaved upon perfect hybridization to the amplified DNA. The cleaved 5’-end of the primary probes transiently hybridize with a corresponding fluorescence resonance energy transfer (FRET) cassettes triggering the cleavage of the fluorophore from the cassette by the cleavase enzyme and allowing signal release and detection.

 

Specimen Requirements

#4395 Activated Protein C Resistance (APCR), Blood should be ordered first. Factor V Leiden should be used for confirmation of abnormally low APCR results.

 

Call Barnes-Jewish Hospital Molecular Diagnostics Laboratory at 314-454-8685 for collection instructions.

 

Forms: Molecular Diagnostics Laboratory Request for DNA Studies-Medical Genetics in Special Instructions.

 

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
Turnaround Time:
STAT: Director approval required
Routine: 3 to 10 business days

Reference Values

An interpretive report will be provided.

 

Test Classification and CPT Coding

81241 

Additional Information

For BJH Laboratory Use Only
Alternate Tube:

1 blue-top (sodium citrate) tube or 1 yellow-top (ACD) tube

Analyte Stability:

Blood is stable 8 hours at ambient temperature, up to 168 hours 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