GP1BA Gene Bernard-Soulier Syndrome Type A1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Bleeding Disorders
The GP1BA Gene Bernard-Soulier Syndrome Type A1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited bleeding disorders. This advanced testing methodology utilizes Next-Generation Sequencing (NGS) technology to provide precise analysis of the GP1BA gene, which plays a critical role in platelet function and blood clotting mechanisms. Bernard-Soulier Syndrome is a rare autosomal recessive disorder characterized by giant platelets, thrombocytopenia, and prolonged bleeding time, making accurate genetic diagnosis essential for proper management and treatment.
What This Test Measures and Detects
This comprehensive genetic test specifically targets the GP1BA gene, which encodes glycoprotein Ib alpha chain – a crucial component of the platelet membrane receptor complex. The test identifies:
- Pathogenic variants and mutations in the GP1BA gene
- Single nucleotide polymorphisms (SNPs) affecting platelet function
- Deletions, insertions, and copy number variations
- Inheritance patterns for family risk assessment
- Specific genetic markers associated with Bernard-Soulier Syndrome Type A1
Who Should Consider This Genetic Test
This test is recommended for individuals experiencing symptoms or having risk factors including:
- Unexplained bruising or petechiae
- Prolonged bleeding from minor injuries
- Heavy or prolonged menstrual bleeding
- Family history of bleeding disorders
- Abnormal platelet count or size on blood tests
- Previous diagnosis of thrombocytopenia with giant platelets
- Planning pregnancy with family history of bleeding disorders
Key Benefits of GP1BA Genetic Testing
Undergoing this advanced genetic analysis provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out Bernard-Soulier Syndrome with high accuracy
- Personalized Treatment: Enables targeted management strategies based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management before serious bleeding complications occur
- Comprehensive Analysis: NGS technology ensures thorough examination of the entire GP1BA gene
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and hematologists:
- Positive Result: Indicates the presence of pathogenic variants in the GP1BA gene, confirming Bernard-Soulier Syndrome diagnosis
- Negative Result: Suggests absence of known pathogenic variants, though clinical correlation is essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Identifies individuals who carry one copy of the mutated gene but typically don’t show symptoms
All results include detailed explanations and recommendations for next steps, including consultation with hematology specialists.
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | GP1BA Gene Bernard-Soulier Syndrome Type A1 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| 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 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Pre-Test Preparation Requirements
Before undergoing testing, patients should provide:
- Complete clinical history relevant to bleeding symptoms
- Participation in genetic counseling session
- Detailed pedigree chart of family members affected by bleeding disorders
- Previous hematology test results and medical records
Take Control of Your Genetic Health Today
Don’t let uncertainty about inherited bleeding disorders affect your quality of life. Our GP1BA genetic testing provides the clarity you need for informed medical decisions and personalized care. With our discounted price of $500 USD and comprehensive nationwide coverage, accessing advanced genetic diagnostics has never been more convenient.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your appointment or book your test online. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
