Prothrombin Gene Mutation Analysis Test
Understanding Prothrombin Gene Mutation Analysis
The Prothrombin Gene Mutation Analysis Test represents a cutting-edge genetic screening method designed to identify specific mutations in the prothrombin gene (Factor II) that significantly increase the risk of thrombophilia and venous thromboembolic disorders. This sophisticated molecular diagnostic approach provides crucial insights into your genetic predisposition to abnormal blood clotting conditions, enabling proactive healthcare management and personalized prevention strategies.
Prothrombin, also known as Factor II, plays a vital role in the blood coagulation cascade. When specific genetic mutations occur, particularly the G20210A variant, individuals experience increased prothrombin levels in their bloodstream, substantially elevating their risk of developing dangerous blood clots. This test serves as an essential tool for comprehensive thrombophilia evaluation and risk assessment.
What Does the Test Detect?
The Prothrombin Gene Mutation Analysis specifically targets and identifies the Factor II G20210A mutation using advanced Real-Time PCR technology. This sophisticated molecular technique detects:
- The G20210A point mutation in the prothrombin gene
- Genetic variations that lead to elevated prothrombin levels
- Inherited risk factors for venous thrombosis
- Genetic markers associated with thrombophilia
- Predisposition to deep vein thrombosis (DVT)
- Risk factors for pulmonary embolism
Who Should Consider This Test?
Several patient populations benefit significantly from Prothrombin Gene Mutation Analysis:
Clinical Indications
- Individuals with personal history of unexplained venous thrombosis
- Patients with recurrent deep vein thrombosis or pulmonary embolism
- Those with family history of thrombophilia or clotting disorders
- Women experiencing recurrent pregnancy loss or complications
- Patients planning major surgery with increased thrombosis risk
- Individuals with unusual clotting locations (cerebral, mesenteric)
- Young patients (under 50) with thrombotic events
- Those with thrombosis without typical risk factors
Symptoms and Risk Factors
- Unexplained swelling, pain, or redness in limbs
- Recurrent miscarriages or pregnancy complications
- Family members diagnosed with clotting disorders
- Multiple thrombotic events without clear cause
- Thrombosis during pregnancy or hormone therapy
- Clotting at unusual anatomical sites
Benefits of Prothrombin Gene Mutation Testing
Undergoing Prothrombin Gene Mutation Analysis offers numerous advantages for comprehensive healthcare management:
- Personalized Risk Assessment: Provides individualized evaluation of thrombosis risk based on genetic factors
- Preventive Strategies: Enables development of targeted prevention plans for high-risk individuals
- Informed Treatment Decisions: Guides appropriate anticoagulation therapy when needed
- Family Planning Guidance: Offers valuable information for reproductive decisions and pregnancy management
- Early Intervention: Facilitates proactive measures before thrombotic events occur
- Comprehensive Evaluation: Complements other thrombophilia testing for complete assessment
- Lifetime Risk Management: Provides lifelong information for ongoing health monitoring
Understanding Your Test Results
Interpreting Prothrombin Gene Mutation Analysis results requires professional medical guidance:
Possible Results
- Negative/Normal: No G20210A mutation detected – indicates typical genetic profile for prothrombin
- Heterozygous Positive: One copy of mutated gene – indicates increased thrombosis risk (2-3 fold)
- Homozygous Positive: Two copies of mutated gene – indicates significantly elevated thrombosis risk
Clinical Implications
A positive result doesn’t guarantee thrombosis development but indicates increased susceptibility. Your healthcare provider will consider this information alongside clinical history, additional risk factors, and other laboratory findings to develop an appropriate management plan. Negative results provide reassurance but don’t completely eliminate thrombosis risk from other causes.
Test Pricing and Details
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $112 |
| Regular Price | $200 |
Testing Information
- Turnaround Time: Sample Monday/Thursday by 11 AM; Report Wednesday/Saturday
- Sample Type: 3 mL (1.5 mL minimum) whole blood in 1 Lavender Top (EDTA) tube
- Shipping: Refrigerated transport required – DO NOT FREEZE
- Required Documentation: Duly filled Genomics Clinical Information Requisition Form (Form 20) mandatory
- Testing Method: Real-Time PCR
- Specialty: Hematology / Molecular Diagnostics
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified testing facilities ensures accessible, reliable genetic analysis for patients nationwide.
Take Control of Your Health Today
Understanding your genetic predisposition to thrombophilia can significantly impact your long-term health outcomes. The Prothrombin Gene Mutation Analysis Test provides valuable insights that empower you and your healthcare provider to make informed decisions about prevention, monitoring, and treatment strategies.
Ready to schedule your Prothrombin Gene Mutation Analysis? Contact our genetic counseling team today to discuss your testing needs and schedule your appointment. Call or WhatsApp us at +1(267) 388-9828 to book your comprehensive genetic evaluation and take the first step toward personalized thrombosis risk management.
Our experienced healthcare professionals are available to answer your questions, provide detailed test information, and guide you through the testing process. Don’t wait to gain crucial insights into your genetic health profile – proactive testing today can prevent serious complications tomorrow.

