Thrombophilia is an inherited or acquired susceptibility to thrombosis due to an abnormality of blood coagulation. Factor V Leiden thrombophilia is the most common form of inherited thrombophilia, followed by factor II (prothrombin)-related thrombophilia. In addition, hyperhomocysteinemia, which can be caused by mutations in MTHFR, may compound the risk for thrombosis, when observed along with factor V Leiden or factor II-related thrombophilia. Risks associated with thrombophilia can include deep-vein thrombosis, pulmonary embolism, and cerebral-vein thrombosis.
The Genetics Center Thrombotic Risk Panel includes: targeted mutation analysis for the factor V Leiden mutation (c.1691G>A or p.R506Q), factor II (prothrombin) mutation (p.G20210A), and the MTHFR variants (C677T and A1298C). Molecular testing of each gene individually is also available at the Genetics Center Molecular Diagnostic Laboratory.
- An individual with unprovoked venous thromboembolism (VTE) before the age of 50.
- An individual with recurrent VTE.
- An individual with VTE at an unusual site (cerebral, mesenteric, portal, or hepatic veins).
- A woman with VTE during pregnancy.
- A woman with VTE associated with the use of oral contraceptives or hormone replacement therapy.
- An individual with VTE at any age in an individual with a first-degree relative with VTE before age 50.
- PCR and RFLP analysis for the specific above mentioned mutations.
- 6 days
- Blood: A single tube with 1-5 mL whole blood in EDTA (lavender top).
- Saliva: To request a DNA Mouthwash Collection Kit please contact Genetics Center at (714)288-3500.
- Shipping: Store blood at 4°C until shipment. Ship at ambient temperature in an insulated container via overnight delivery within 96 hours of collection.
211 S. Main Street
Orange, CA 92868
- Molecular Testing Requisition Form (Click Here)
- Molecular Diagnostic Consent Form:
This panel is designed to be a targeted mutation analysis for the mutations listed above. Test results on DNA extracted from a patient with recent liver transplantation or hematopoietic stem cell transplantation must be interpreted with caution. Molecular genetic identity testing of donor tissue may be required in these scenarios.
- Stacked CPT’s: 81240×1, 81214×1, 81291×2, G0452