GP1BA Gene von Willebrand Disease Platelet Type NGS Genetic DNA Test
Comprehensive Genetic Analysis for Platelet-Type von Willebrand Disease
The GP1BA Gene von Willebrand Disease Platelet Type NGS Genetic DNA Test represents a significant advancement in the diagnosis and management of inherited bleeding disorders. This specialized genetic test focuses on identifying mutations in the GP1BA gene, which plays a critical role in platelet function and hemostasis. Platelet-type von Willebrand disease is a rare autosomal dominant bleeding disorder characterized by increased platelet affinity for von Willebrand factor, leading to spontaneous platelet aggregation and subsequent thrombocytopenia.
What This Test Measures and Detects
This comprehensive genetic analysis utilizes Next Generation Sequencing (NGS) technology to examine the entire coding region of the GP1BA gene. The test specifically identifies:
- Missense mutations in the GP1BA gene that affect glycoprotein Ibα function
- Genetic variations responsible for increased binding affinity to von Willebrand factor
- Inherited mutations that lead to spontaneous platelet aggregation
- Genetic markers associated with thrombocytopenia and bleeding tendencies
- Specific nucleotide changes that impact platelet membrane glycoprotein complexes
Who Should Consider This Test
This genetic test is particularly important for individuals presenting with:
- Unexplained bruising or excessive bleeding following minor injuries
- Prolonged bleeding time after dental procedures or surgeries
- Family history of bleeding disorders or platelet function abnormalities
- Recurrent nosebleeds or gastrointestinal bleeding without clear cause
- Women experiencing heavy menstrual bleeding or postpartum hemorrhage
- Patients with thrombocytopenia of unknown origin
- Individuals with suspected platelet-type von Willebrand disease based on clinical presentation
Clinical Benefits of Genetic Testing
Undergoing the GP1BA Gene von Willebrand Disease Platelet Type NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of platelet-type von Willebrand disease
- Personalized Treatment: Enables tailored therapeutic approaches based on specific genetic mutations
- Family Planning: Offers valuable information for genetic counseling and family planning decisions
- Early Intervention: Facilitates proactive management strategies before severe bleeding episodes occur
- Differential Diagnosis: Helps distinguish platelet-type von Willebrand disease from other bleeding disorders
- Long-term Monitoring: Establishes baseline genetic information for ongoing patient care
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and hematology specialists. The report will include:
- Positive Result: Indicates the presence of a pathogenic mutation in the GP1BA gene, confirming the diagnosis of platelet-type von Willebrand disease
- Negative Result: Suggests no detectable mutations in the GP1BA gene, though clinical correlation with other diagnostic tests is recommended
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance is currently unknown, requiring additional family studies or follow-up testing
- Carrier Status: Provides information about inheritance patterns and risk to family members
All positive results are confirmed through Sanger sequencing to ensure accuracy and reliability. Our genetic counseling team will provide comprehensive guidance on result interpretation and next steps.
Test Pricing Information
| Test Description | Regular Price | Discount Price |
|---|---|---|
| GP1BA Gene von Willebrand Disease Platelet Type NGS Genetic DNA Test | $700 USD | $500 USD |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Testing Method: Next Generation Sequencing (NGS) Technology
- Specialty: Hematology Genetics
- Department: Genetics
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history including bleeding symptoms and family medical background
- Participation in a genetic counseling session to create a detailed pedigree chart
- Documentation of affected family members with bleeding disorders
- Informed consent for genetic testing and result disclosure
Nationwide Testing Availability
We have conveniently located branches across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and many other cities. Our state-of-the-art genetic testing facilities ensure consistent quality and reliable results nationwide.
Take the Next Step Toward Better Health
If you or a family member experiences symptoms suggestive of platelet-type von Willebrand disease, don’t delay in seeking proper diagnosis. Our comprehensive genetic testing provides the clarity needed for effective management of bleeding disorders. Contact our genetic counseling team today to schedule your appointment and take control of your health journey.
Book your GP1BA Gene von Willebrand Disease Platelet Type NGS Genetic DNA Test today by calling +1(267) 388-9828 or schedule your appointment online. Our dedicated team is ready to assist you with comprehensive genetic testing and personalized care.
