Thrombophilia: Factor II Prothrombin & Factor V Leiden Testing (Factor II, Factor V, & MTHFR Genotyping)

Alternate test name

Factor V Leiden Testing, Prothrombin Mutation Testing, Thrombosis Mutation Testing

Gene name / Alternate gene name

Factor V Leiden (G1691A), F5 Gene, Factor II (G20210A), F2 Gene, Prothrombin Gene testing, Methylenetetrahydrofolate Reductase

Lab area

Haematopathology - Molecular

Method and equipment

Real Time PCR for the detection of:

Factor II Prothrombin (F2 NM_000506.5 c.*97G>A)

Factor V Leiden (F5 NM_000130.5 c.1601G>A)

MTHFR C677T (NM_005957.5 c.677C>T)

Expected turn-around time

10 Business Days

Specimen type

Blood in EDTA (Lavender top tube) at room temperature (minimum 2 mL)

Specimen requirements

Blood in EDTA (Lavender top tube) at room temperature (minimum 2 mL)

Storage and transportation

Keep specimen at room temperature

Shipping information

The Hospital for Sick Children

Rapid Response Laboratory

555 University Avenue, Room 3642

Toronto, ON

Canada

M5G 1X8

Phone: 416-813-7200

Toll Free: 1-855-381-3212

Hours: 7 days/week, 24 hours/day

Requisition

Thrombophilia: Factor II Prothrombin & Factor V Leiden Testing (Factor II, Factor V, & MTHFR Genotyping) - requisition

Background and clinical significance

Factor II and Factor V testing identifies genetic mutations, particularly the Factor II G20210 mutation and Factor V Leiden G1691A mutation, which increase the risk of venous thromboembolism (blood clots). MTHFR c.677C>T testing detects a genetic mutation that affects how the body processes folate and metabolizes homocysteine, leading to increased homocysteine levels in the blood, would which may lead to an increased risk of blood clots.

Disease condition

Testing results can help guide medical management and risk assessment for conditions like deep vein thrombosis (DVT) and pulmonary embolism (PE)