GP1BB Gene Bernard Soulier Syndrome Type B NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Bleeding Disorders
The GP1BB Gene Bernard Soulier Syndrome Type B NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited bleeding disorders. Bernard Soulier Syndrome is a rare autosomal recessive platelet disorder characterized by giant platelets, thrombocytopenia, and prolonged bleeding time. This specific test focuses on the GP1BB gene, which encodes the glycoprotein Ib beta chain, a crucial component of the platelet membrane receptor complex essential for proper platelet adhesion and aggregation.
What This Advanced Genetic Test Measures
Our state-of-the-art NGS (Next Generation Sequencing) technology provides comprehensive analysis of the GP1BB gene to identify pathogenic variants responsible for Bernard Soulier Syndrome Type B. The test specifically detects:
- Point mutations in the GP1BB gene coding regions
- Small insertions and deletions affecting gene function
- Splice site mutations that disrupt normal protein production
- Frameshift mutations leading to abnormal protein structure
- Nonsense mutations causing premature protein termination
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with symptoms suggestive of inherited platelet disorders or those with concerning family medical histories:
- Patients with unexplained bruising or petechiae
- Individuals experiencing prolonged bleeding from minor injuries
- Those with frequent nosebleeds or gum bleeding
- Women with heavy menstrual bleeding without other causes
- Patients with family history of bleeding disorders
- Individuals with abnormal platelet counts or morphology
- Patients preparing for surgical procedures with bleeding concerns
Significant Benefits of Genetic Testing
Undergoing the GP1BB Gene Bernard Soulier Syndrome Type B NGS Genetic DNA Test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Provides definitive identification of genetic mutations causing bleeding disorders
- Personalized Treatment: Enables tailored management strategies based on specific genetic findings
- Family Planning: Offers crucial information for genetic counseling and family planning decisions
- Early Intervention: Facilitates proactive management to prevent bleeding complications
- Comprehensive Analysis: NGS technology ensures thorough examination of the entire GP1BB gene
- Clinical Correlation: Helps correlate genetic findings with clinical symptoms for better understanding
Understanding Your Test Results
Our comprehensive genetic testing provides detailed insights into your GP1BB gene status:
- Positive Result: Indicates the presence of pathogenic mutations in the GP1BB gene, confirming Bernard Soulier Syndrome Type B diagnosis
- Negative Result: Suggests no detectable mutations in the GP1BB gene, though other genetic or acquired causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if you carry one copy of a mutated gene, important for family planning
All results are accompanied by detailed interpretation and recommendations from our genetic specialists. We provide comprehensive genetic counseling to help you understand your results and their implications for your health and family.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | GP1BB Gene Bernard Soulier Syndrome Type B NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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 Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our extensive network ensures that quality genetic testing is accessible to everyone who needs it.
Take Control of Your Genetic Health Today
Don’t let uncertainty about inherited bleeding disorders affect your quality of life. The GP1BB Gene Bernard Soulier Syndrome Type B NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. Our team of genetic specialists is ready to guide you through the testing process and help you understand your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation. Take the first step toward understanding your genetic health and ensuring proper management of potential bleeding disorders.
