PIK3R1 Gene Agammaglobulinemia Type 7 Autosomal Recessive NGS Genetic DNA Test
Comprehensive Genetic Testing for Immune System Disorders
The PIK3R1 Gene Agammaglobulinemia Type 7 Autosomal Recessive NGS Genetic DNA Test represents a breakthrough in diagnostic precision for individuals and families affected by inherited immune deficiency disorders. This advanced genetic analysis specifically targets mutations in the PIK3R1 gene, which plays a critical role in the proper development and function of B cells – the immune cells responsible for antibody production.
What This Revolutionary Test Detects
Our state-of-the-art NGS genetic test meticulously examines the PIK3R1 gene for pathogenic variants that cause Agammaglobulinemia Type 7, an autosomal recessive condition characterized by:
- Complete absence or severe deficiency of B lymphocytes
- Markedly reduced levels of all immunoglobulin classes
- Impaired antibody-mediated immune responses
- Increased susceptibility to bacterial infections
Who Should Consider This Genetic Test?
This comprehensive genetic analysis is particularly recommended for individuals presenting with:
Clinical Symptoms and Indicators
- Recurrent bacterial infections beginning in infancy or early childhood
- Persistent respiratory infections including pneumonia and bronchitis
- Chronic gastrointestinal infections and malabsorption issues
- Failure to thrive and growth retardation in children
- Family history of primary immunodeficiency disorders
- Unexplained low immunoglobulin levels on blood tests
- Suspected autosomal recessive inheritance pattern of immune deficiency
Transformative Benefits of Genetic Testing
Early Intervention and Personalized Care
By identifying PIK3R1 gene mutations early, healthcare providers can implement targeted treatment strategies including:
- Regular immunoglobulin replacement therapy
- Prophylactic antibiotic regimens
- Customized vaccination schedules
- Specialized infection prevention protocols
Family Planning and Genetic Counseling
The test results provide invaluable information for:
- Accurate carrier detection in family members
- Informed reproductive decision-making
- Prenatal diagnosis options for at-risk pregnancies
- Comprehensive genetic counseling sessions
Understanding Your Genetic Test Results
Interpretation Guidelines
Our detailed genetic report includes comprehensive analysis of:
- Positive Result: Identification of pathogenic mutations confirms Agammaglobulinemia Type 7 diagnosis, enabling immediate intervention and specialized care coordination with hematologists and immunologists.
- Negative Result: Absence of known pathogenic variants significantly reduces the likelihood of PIK3R1-related Agammaglobulinemia, though other genetic causes may require investigation.
- Variant of Uncertain Significance: Some genetic changes require additional family studies and clinical correlation for proper interpretation.
Post-Test Recommendations
All positive results include detailed guidance on:
- Specialist referral coordination
- Treatment initiation protocols
- Family member testing recommendations
- Long-term management strategies
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | PIK3R1 Gene Agammaglobulinemia Type 7 Autosomal Recessive 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 |
| Specialty | Hematology and Genetics |
Nationwide Accessibility and Expert Support
We maintain comprehensive testing facilities across the United States, with convenient locations in:
- New York City and surrounding metropolitan areas
- Los Angeles and Southern California regions
- Chicago and Midwest territories
- Houston and Texas medical centers
- Phoenix and Southwest healthcare networks
- All other major US cities and medical hubs
Pre-Test Preparation Requirements
To ensure optimal testing accuracy, we require:
- Complete clinical history documentation
- Genetic counseling session for pedigree analysis
- Informed consent for genetic testing
- Insurance pre-authorization when applicable
Take Control of Your Genetic Health Today
Don’t let uncertainty about inherited immune disorders affect your quality of life. Our specialized genetic testing provides definitive answers and clear pathways for effective management. With our discounted price of $500 USD, comprehensive genetic analysis has never been more accessible.
Ready to begin your genetic health journey? Contact our expert genetic counselors today at +1(267) 388-9828 or schedule your appointment online. Our dedicated team is available to answer your questions and guide you through every step of the testing process.
Early genetic diagnosis can transform treatment outcomes and provide life-changing insights for you and your family. Take the first step toward comprehensive genetic understanding and personalized medical care.
