Thrombotic Risk Panel

Reason for Referral Testing Methods Turn around Time
Specimen Requirements Required Forms CPT Codes

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 Ppanel 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.

REASONS FOR REFERRAL:

• 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.

GENETICS CENTER THROMBOTIC RISK PANEL TESTING METHODS:

• PCR and RFLP analysis for the specific above mentioned mutations.

TURN AROUND TIME:

• 6 days

SPECIMEN REQUIREMENTS AND SHIPPING/HANDLING:

• Blood: A single tube with 1-5 mL whole blood in EDTA (lavender top).
  • Shipping: Store blood at 4°C until shipment. Ship at ambient temperature in an insulated container via overnight delivery within 96 hours of collection.

Send to:

REQUIRED FORMS:

• Molecular Testing Requisition Form (Click Here)
• Molecular Diagnostic Consent Form:
  • English Click Here
  • Spanish Click Here

TEST LIMITATIONS:
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.

CPT CODES:

• 83891×1, 83896×24, 83898×12, 88291×1