Thrombotic Risk, DNA Panel
Also known as: THROMDNA
Use
The Thrombotic Risk, DNA Panel is designed to detect the two most common inherited thrombophilias: Factor V Leiden (R506Q variant of the F5 gene) and Prothrombin (G20210A variant of the F2 gene). Additionally, it assesses thrombophilia associated with pathogenic variants in the MTHFR gene (c.665C>T and c.1286A>C). These genetic factors contribute significantly to thrombotic risk assessment, providing critical information for evaluating potential venous thromboembolism (VTE) risk in individuals. Understanding these genetic predispositions aids in the management and prevention of thrombotic events.
Special Instructions
Informed Consent for Genetic Testing is required for patients from New York. The test uses whole blood specimens collected in Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B) tubes. Refrigerated transport is necessary, and specific collection methods ensure sample integrity.
Limitations
The test does not detect rare sequence variations beyond the specified variants (R506Q in F5, G20210A in F2, and c.665C>T, c.1286A>C in MTHFR). Mutations in the F5 and F2 genes that are not within the provided assay target may go undetected. Variants beyond those examined in the MTHFR gene are not covered. Thus, diagnostic limitations must be considered, particularly for rare alleles or mutations beyond the panel's scope.
New York Approved
Methodology
PCR-based (qPCR)
Biomarkers
Result Turnaround Time
2-6 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
3 mL
Container
Lavender (EDTA), pink (K2EDTA) or yellow (ACD solution A or B)
Storage Instructions
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 | 72 hours |
| Refrigerated | 1 week |
| Frozen | 1 month |