BTK Gene Agammaglobulinemia and Isolated Hormone Deficiency NGS Genetic DNA Test
Comprehensive Genetic Analysis for Immune System Disorders
The BTK Gene Agammaglobulinemia and Isolated Hormone Deficiency NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the Bruton’s tyrosine kinase (BTK) gene. This sophisticated genetic analysis plays a crucial role in diagnosing X-linked agammaglobulinemia (XLA), a primary immunodeficiency disorder that affects the body’s ability to produce antibodies and fight infections effectively. The test’s comprehensive nature extends beyond immune system evaluation to include assessment of associated growth hormone deficiencies, providing healthcare providers with a complete clinical picture for accurate diagnosis and personalized treatment planning.
What This Advanced Genetic Test Detects
This specialized NGS-based genetic test specifically targets mutations within the BTK gene located on the X chromosome. The test identifies:
- Point mutations, deletions, and insertions in the BTK gene
- Genetic variations responsible for X-linked agammaglobulinemia
- Mutations associated with isolated growth hormone deficiency
- Inheritance patterns for family genetic counseling
- Risk assessment for affected family members
Clinical Significance of BTK Gene Testing
The BTK gene encodes Bruton’s tyrosine kinase, an essential enzyme for B-cell development and maturation. When mutations occur in this gene, B-cells fail to develop properly, leading to significantly reduced or absent antibody production. This deficiency compromises the immune system’s ability to combat bacterial and viral infections, making affected individuals highly susceptible to recurrent illnesses. Additionally, some BTK mutations can disrupt normal growth hormone regulation, resulting in associated endocrine complications.
Who Should Consider This Genetic Test
This comprehensive genetic evaluation is particularly recommended for individuals presenting with:
- Recurrent bacterial infections starting in infancy or early childhood
- Family history of X-linked agammaglobulinemia or immune deficiencies
- Delayed growth patterns or unexplained short stature
- Persistent sinusitis, bronchitis, or pneumonia
- Low levels of immunoglobulins (IgG, IgA, IgM) in blood tests
- Male infants with affected maternal relatives
- Unexplained failure to thrive in male children
Symptom Patterns Indicating Testing Need
Patients typically exhibit symptoms within the first two years of life, including frequent ear infections, chronic diarrhea, skin infections, and respiratory complications. The absence of tonsils and lymph nodes on physical examination may also suggest X-linked agammaglobulinemia. Early genetic testing enables prompt intervention and prevents long-term complications associated with untreated immune deficiencies.
Significant Benefits of Genetic Testing
Undergoing the BTK Gene Agammaglobulinemia and Isolated Hormone Deficiency NGS Genetic DNA Test offers numerous advantages:
- Accurate Diagnosis: Provides definitive confirmation of X-linked agammaglobulinemia
- Early Intervention: Enables prompt initiation of immunoglobulin replacement therapy
- Family Planning Guidance: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides targeted therapeutic approaches based on specific genetic findings
- Proactive Management: Facilitates preventive measures against serious infections
- Growth Monitoring: Identifies associated hormone deficiencies requiring endocrine management
Long-Term Health Implications
Early diagnosis through genetic testing significantly improves long-term outcomes by preventing chronic lung disease, irreversible organ damage, and life-threatening infections. Regular immunoglobulin replacement therapy, initiated based on genetic confirmation, can restore near-normal immune function and dramatically enhance quality of life.
Understanding Your Genetic Test Results
Test results are typically categorized as follows:
- Positive Result: Indicates the presence of a pathogenic mutation in the BTK gene, confirming diagnosis of X-linked agammaglobulinemia
- Negative Result: Suggests absence of detectable BTK mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: For female relatives, indicates potential to pass the mutation to offspring
Post-Test Guidance and Next Steps
Following test completion, comprehensive genetic counseling is provided to help patients and families understand results and implications. Positive results typically lead to initiation of immunoglobulin replacement therapy, antibiotic prophylaxis, and regular monitoring by immunology and hematology specialists. For identified growth hormone deficiencies, endocrine consultation and appropriate hormone replacement therapy may be recommended.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Technology: Next-Generation Sequencing (NGS)
- Specialty: Hematology and Genetics
Pre-Test Requirements and Preparation
Before undergoing testing, patients must provide:
- Complete clinical history detailing symptoms and family background
- Participation in genetic counseling session
- Development of detailed pedigree chart documenting affected family members
- Informed consent understanding test implications and potential outcomes
Nationwide Testing Availability
We maintain comprehensive testing facilities across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and numerous other cities. Our network ensures accessible genetic testing services for patients nationwide.
Schedule Your Genetic Test Today
Take the first step toward accurate diagnosis and effective management of immune system disorders. Our experienced genetic counselors and hematology specialists are ready to guide you through the testing process and provide comprehensive support. Contact us today to schedule your BTK Gene Agammaglobulinemia and Isolated Hormone Deficiency NGS Genetic DNA Test.
Call or WhatsApp: +1(267) 388-9828
Book your appointment now and benefit from our discounted pricing of $500 for this comprehensive genetic analysis. Early detection through advanced NGS technology can significantly improve treatment outcomes and quality of life for individuals with BTK gene mutations.
