Prothrombin G20210A (Factor II) Mutation

Genetic

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Genetic thrombophilia test.

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Prothrombin G20210A (Factor II) Mutation - Comprehensive Test Guide

Why is it done?
- Test measures the presence of the G20210A mutation in the prothrombin (Factor II) gene, which is a genetic variation that increases blood clotting risk
- Evaluates inherited thrombophilia and predisposition to venous thromboembolism (VTE), including deep vein thrombosis (DVT) and pulmonary embolism (PE)
- Indicated when patients have unexplained or recurrent blood clots, particularly in unusual locations (mesenteric, cerebral, or portal veins)
- Recommended for screening family members of patients with known G20210A mutation or documented thrombophilia
- Used to assess risk in women considering hormone-containing contraception or hormone replacement therapy (HRT)
- Performed before major surgery or prolonged immobilization in patients with personal or family history of thrombosis
- Evaluated in patients with pregnancy-related thrombotic complications or recurrent miscarriages
Normal Range
- Normal Result: Homozygous normal (GG genotype) - Wild-type alleles present on both copies of the prothrombin gene
- Interpretation: No G20210A mutation detected. Indicates normal genetic status with typical baseline thrombotic risk. Result is reported as "Negative" or "Normal"
- Heterozygous Result: GA genotype - One normal allele (G) and one mutant allele (A)
- Interpretation: Mutation detected. Indicates carrier status with moderately increased thrombotic risk (approximately 2-3 fold increase). Result is reported as "Heterozygous" or "Positive"
- Homozygous Result: AA genotype - Two mutant alleles present on both copies of the prothrombin gene
- Interpretation: Homozygous mutation present. Indicates significantly elevated thrombotic risk (approximately 6-8 fold increase compared to wild-type). Result is reported as "Homozygous"
- Units: DNA sequence analysis (genotype classification) - No numerical values reported; results are qualitative based on genetic testing methodology
Interpretation
- Negative/Normal Result (GG genotype): Patient does not carry the G20210A prothrombin mutation. Baseline thrombotic risk remains unchanged. No increased genetic predisposition to thrombophilia from this mutation. Routine anticoagulation precautions apply.
- Heterozygous Result (GA genotype): Carries one copy of the mutation. Increases prothrombin (Factor II) levels approximately 1.3-2 times above normal. Elevated prothrombin levels increase thrombin generation and clotting tendency. Absolute lifetime VTE risk approximately 4-5% (compared to 1% in general population). Risk further increases with additional thrombotic risk factors.
- Homozygous Result (AA genotype): Carries two copies of the mutation (rare in general population, frequency approximately 1 in 5,000). Prothrombin levels significantly elevated (2-3 fold increase). Substantially increased thrombotic risk. Absolute lifetime VTE risk approximately 10-15%. Higher likelihood of early onset thrombosis and recurrent events.
- Factors Affecting Interpretation: Presence of additional thrombophilia markers (Factor V Leiden, antithrombin deficiency, protein C/S deficiency) compounds VTE risk exponentially
- Acquired thrombotic risk factors (malignancy, antiphospholipid syndrome, immobility, recent surgery, trauma) significantly increase clinical thrombotic risk
- Oral contraceptive use and hormone replacement therapy substantially increase VTE risk in mutation carriers (up to 10-15 fold increase)
- Pregnancy and postpartum period significantly elevate thrombotic risk in heterozygous and homozygous carriers
- Genetic variation does not guarantee thrombosis will occur; penetrance is incomplete with only approximately 20-25% of heterozygous carriers experiencing VTE during lifetime
- Clinical Significance: Positive results should prompt careful assessment of additional thrombotic risk factors and may influence decisions regarding prophylactic anticoagulation, lifestyle modifications, and medication choices
Associated Organs
- Primary Systems Involved: Hematologic (blood and blood-forming organs) - Prothrombin (Factor II) is a coagulation factor synthesized in the liver
- Vascular system - Blood vessels are directly affected by abnormal clotting
- Hepatic (liver) - Primary site of prothrombin synthesis and affected by genetic variation
- Associated Conditions with Abnormal Results: Deep vein thrombosis (DVT) - Blood clots in lower extremity veins, may be recurrent
- Pulmonary embolism (PE) - Life-threatening blood clot in pulmonary arteries
- Thrombophilia - Inherited hypercoagulable state predisposing to thrombosis
- Mesenteric venous thrombosis - Uncommon but serious thrombosis of abdominal blood vessels
- Cerebral venous sinus thrombosis - Blood clot in brain venous sinuses
- Portal vein thrombosis - Blood clot in portal vein affecting liver function
- Arterial thrombosis - Rare but can occur with severe homozygous mutation
- Pregnancy-related complications - Recurrent miscarriages, preeclampsia, placental thrombosis
- Potential Complications and Risks: Life-threatening pulmonary embolism with acute dyspnea, chest pain, and hemodynamic instability
- Post-thrombotic syndrome with chronic leg pain, edema, and skin changes following DVT
- Venous insufficiency and chronic complications affecting quality of life
- Stroke or transient ischemic attack if cerebral venous thrombosis occurs
- Abdominal pain and bleeding from mesenteric thrombosis
Follow-up Tests
- Recommended Follow-up Testing: Factor V Leiden mutation testing - Most common thrombophilia marker; significantly increases VTE risk when combined with prothrombin mutation
- Antithrombin (AT) activity and antigen - Deficiency significantly increases thrombotic risk; combined mutations compound risk
- Protein C and Protein S levels and activity - Natural anticoagulants; deficiency increases VTE risk
- Prothrombin time (PT/INR) - Baseline coagulation assessment to evaluate coagulation pathway function
- Activated partial thromboplastin time (aPTT) - Evaluates intrinsic coagulation pathway
- Thrombin time (TT) - Assesses final common pathway of coagulation
- Antiphospholipid antibodies (anticardiolipin, anti-β2 glycoprotein) - Acquired thrombophilia that compounds inherited genetic risk
- Prothrombin level/activity - Quantifies Factor II levels to assess degree of elevation
- Fibrinogen level - Assesses quantity of fibrinogen involved in clot formation
- Homocysteine level - Elevated levels independently increase thrombotic risk; interaction with prothrombin mutation increases risk
- Imaging Studies for Thrombotic Symptoms: Compression ultrasound of lower extremities - To detect DVT
- CT pulmonary angiography (CTPA) - To evaluate for suspected pulmonary embolism
- Venography - Alternative imaging for lower extremity venous thrombosis assessment
- MR venography - For cerebral venous sinus thrombosis or portal vein assessment
- Monitoring Frequency: No routine monitoring required for asymptomatic carriers; baseline screening is typically one-time
- INR monitoring if patient prescribed warfarin anticoagulation therapy (typically weekly initially, then monthly/quarterly)
- Clinical assessment if patient experiences symptoms suggestive of thrombosis (acute leg swelling, chest pain, dyspnea)
- Family screening recommended for first-degree relatives (parents, siblings, children)
- Related Complementary Tests: Comprehensive thrombophilia panel - Evaluates multiple genetic and acquired thrombotic risk factors simultaneously
- D-dimer - Elevated in active thrombosis; can guide clinical suspicion for VTE
- Platelet count - Rule out thrombocytopenia that may complicate bleeding/clotting assessment
Fasting Required?
- Fasting Required: No - This is a genetic DNA test and is not affected by food intake
- Duration: Not applicable - Fasting not required for genetic testing
- Medications to Avoid: No medications need to be held or avoided specifically for this genetic test
- Continue all regular medications including anticoagulants, antiplatelet agents, and other routine medicines
- Hormone replacement therapy or oral contraceptives do not need to be discontinued
- Patient Preparation: No special preparation required beyond standard blood collection protocol
- Blood sample collection: Typically 1 EDTA tube (lavender top) or EDTA-K2 tube containing 2-3 mL whole blood for DNA extraction
- Can eat and drink normally before appointment; no restriction on activities
- No need to avoid alcohol before test
- Wear comfortable clothing to facilitate venipuncture
- Inform healthcare provider of current medications, recent infections, or other medical conditions for proper sample handling
- Results typically available within 7-14 business days depending on laboratory processing time and testing method

How our test process works!