Thrombosis SNP panel assay – Factor V Leiden and Prothrombin G20210A – Saskatoon
Discipline
Genetics and Genomics
Overview
Description
Ordering recommendations
- This test is for detecting the two most common genetic variants associated with venous thromboembolism (VTE) - Factor V Leiden and factor II c.*97G>A (formerly referred to as prothrombin 20210G>A).
- One tube of blood is sufficient for both molecular tests (F5L and PR202)
- Repeat testing is not performed since this is a constitutional genomic DNA variant.
Ordering requirements
Alias
- F5L, Factor V Leiden, FVL
- FII, Factor II, PR202, PR20210
- Part of the Thrombophilia Investigation (group code THROM)
Specimen Information
Specimen types accepted
- Whole blood
Specimen collection container
- Preferred collection container: 4 mL Lavender (K2 EDTA
Collection procedure
- Specimens sent shall be drawn by venipuncture
- Invert several times to mix
- Specimen must be accompanied by a completed requisition
- Failure to include relevant patient information may result in test results being delayed or discontinued
Required volume
- Optimal volume: 4.0 mL
- Minimum volume: 1.0 mL
Transport and stability
- Ship specimens at ambient temperature
- Specimens may be stored at 2-8°C
Rejection criteria
- Mislabelled/unlabelled specimens
- Specimen > 7 days post collection date
- Frozen specimens
- Lysed specimens
- Leaking specimens
- Improperly stored specimens
Performance
Methodology
- Allele specific PCR and melt-curve analysis
- Detects if the sample is positive (heterozygous or homozygous for this specific single nucleotide polymorphisms) or negative (homozygous wild-type)
Days/times performed
Availability
-
Specimens are received in the RUH Genomics Laboratory weekdays from 8:00 a.m. to 5:00 p.m.
-
Routine batch testing performed once or twice per week
Maximum laboratory time
- The turnaround time is 28 days from specimen receipt
Specimen retention time
- Peripheral blood retained for 14 days
- Extracted DNA stored for 2 years
Last Updated: April 2, 2024