Prothrombin (F2) c.*97G>A (G20210A) Pathogenic Variant
Also known as: PT PCR
Use
The Factor II, c.*97G>A (G20210A) pathogenic variant is a common genetic risk factor for venous thrombosis. It is associated with elevated prothrombin levels leading to increased thrombin generation and excessive fibrin clot growth. This genetic variant increases the risk of thrombosis by 2-4 fold for heterozygotes and even further for homozygotes. It is inherited in an incomplete autosomal dominant manner and is notably more prevalent among Caucasians compared to African Americans.
Special Instructions
New York clients must submit informed consent with the sample. It is advised that patients receive counseling and provide informed consent before undergoing genetic testing for this variant. This test requires physician consultation and appropriate ordering protocols.
Limitations
The test can produce diagnostic errors due to rare sequence variations and is specifically limited to detecting the F2 c.*97G>A (G20210A) variant. Other F2 gene variants will not be detected. The test's clinical sensitivity for venous thrombosis is approximately 10%, and the analytical sensitivity and specificity are 99%.
New York Approved
Methodology
PCR-based
Biomarkers
LOINC Codes
- 24475-6
- 31208-2
Result Turnaround Time
2-5 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B).
Storage Instructions
Preferred transport temp: Refrigerated.
Causes for Rejection
Plasma or serum; collection of specimen in sodium heparin tubes. Frozen specimens in glass collection tubes.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 3 days |
| Refrigerated | 1 week |
| Frozen | 1 month |