Prothrombin G20210A Mutation, Blood
Use
This test is useful for patients with clinically suspected thrombophilia, determination of the duration of anticoagulation therapy in venous thromboembolism patients, and screening for women contemplating hormone therapy. It detects the F2 c.*97G>A variant, also known as the G20210A mutation, associated with an increased risk of venous thromboembolism due to increased plasma prothrombin activity. The variant is common among white Americans and particularly frequent in individuals of southern European ancestry.
Special Instructions
Not provided.
Limitations
The assay does not detect alterations associated with thrombophilia other than the F2 c.*97G>A variant. Rare single nucleotide variants under the primers can cause amplification issues resulting in false results—potentially mismatching the allele frequency. Patients with allogenic stem cell transplants may have altered results depending on the donor genotype. The test is not FDA-cleared or approved but meets CLIA requirements as a laboratory-developed test.
New York Approved
Methodology
PCR-based (TaqMan SNP Genotyping Assays)
Biomarkers
F2
Gene
LOINC Codes
- 24475-6 - F2 c.20210G>A Geno Bld/T
- 24475-6 - F2 c.20210G>A Geno Bld/T
- 69049-5 - Coagulation specialist review
- 18771-6 - Provider signing name
Result Turnaround Time
3-5 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Preferred: Lavender top (EDTA); Acceptable: Yellow top (ACD solution B), light-blue top (sodium citrate)
Collection Instructions
Invert several times to mix blood. Send specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Causes for Rejection
Extracted DNA
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 14 days |
| Frozen | 14 days |