GP9 Gene Bernard-Soulier Syndrome Type C NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Bleeding Disorders
The GP9 Gene Bernard-Soulier Syndrome Type C NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for hematological conditions. This advanced genetic test specifically targets mutations in the GP9 gene, which plays a critical role in platelet function and blood clotting mechanisms. Bernard-Soulier Syndrome Type C is a rare autosomal recessive bleeding disorder characterized by giant platelets, thrombocytopenia, and prolonged bleeding times.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology comprehensively analyzes the GP9 gene to identify:
- Point mutations and single nucleotide variants
- Insertions and deletions affecting gene function
- Missense, nonsense, and frameshift mutations
- Splice site variants that disrupt protein production
- Compound heterozygous mutations in affected individuals
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals experiencing:
- Unexplained bruising or petechiae
- Prolonged bleeding from minor injuries
- Heavy menstrual bleeding in females
- Family history of bleeding disorders
- Abnormal platelet counts or morphology
- Previous inconclusive bleeding disorder evaluations
- Genetic counseling for family planning purposes
Key Benefits of GP9 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out Bernard-Soulier Syndrome Type C
- Personalized Treatment: Guides appropriate medical management strategies
- Genetic Counseling: Enables informed family planning decisions
- Early Intervention: Facilitates proactive medical care for affected individuals
- Carrier Detection: Identifies asymptomatic carriers within families
- Research Contribution: Advances understanding of rare bleeding disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates presence of pathogenic GP9 mutations confirming diagnosis
- Negative Result: Suggests absence of detectable GP9 mutations in analyzed regions
- Variant of Uncertain Significance: Requires additional family studies for interpretation
- Carrier Status: Identifies individuals with one mutated copy of the GP9 gene
All results include detailed clinical correlations and recommendations for follow-up care with hematology specialists.
Test Pricing and Availability
| Test Details | Price (USD) |
|---|---|
| GP9 Gene Bernard-Soulier Syndrome Type C NGS Genetic DNA Test | |
| • Discount Price | $500 |
| • Regular Price | $700 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. Our network of certified genetic testing facilities ensures accessibility and convenience for patients nationwide.
Book Your Genetic Test Today
Take the first step toward understanding your genetic health. Our experienced genetic counselors and hematology specialists are ready to assist you with comprehensive testing and personalized care. Contact us today to schedule your appointment or learn more about our genetic testing services.
Call or WhatsApp: +1(267) 388-9828
Our dedicated team will guide you through the testing process, answer your questions, and ensure you receive the highest quality genetic care available. Early diagnosis and proper management can significantly improve quality of life for individuals with bleeding disorders.
