BTK Gene Agammaglobulinemia Type 1 X-Linked NGS Genetic DNA Test
Comprehensive Genetic Analysis for Immune System Disorders
The BTK Gene Agammaglobulinemia Type 1 X-Linked NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for primary immunodeficiency disorders. This advanced screening method specifically targets the Bruton’s tyrosine kinase (BTK) gene, which plays a critical role in B-cell development and antibody production. When mutations occur in this gene, individuals develop X-linked agammaglobulinemia (XLA), a serious condition characterized by severely compromised immune function.
What This Test Measures and Detects
Our comprehensive genetic analysis utilizes Next-Generation Sequencing (NGS) technology to examine the entire BTK gene for pathogenic variants. The test specifically identifies:
- Point mutations, deletions, and insertions in the BTK gene
- X-linked inheritance patterns of agammaglobulinemia
- Genetic markers associated with impaired B-cell maturation
- Specific mutations that disrupt antibody production pathways
- Carrier status in female relatives of affected individuals
Who Should Consider This Genetic Test
This specialized genetic screening is recommended for individuals presenting with specific clinical indicators:
- Male infants and children with recurrent bacterial infections
- Patients with significantly low immunoglobulin levels (IgG, IgA, IgM)
- Individuals with absent or markedly reduced B-cells in peripheral blood
- Family history of X-linked agammaglobulinemia or primary immunodeficiency
- Unexplained failure to thrive in male infants
- Suspected immune deficiency with normal T-cell function
- Female relatives of affected males for carrier testing
Clinical Benefits of Genetic Testing
Early genetic diagnosis through BTK gene testing provides numerous clinical advantages:
- Early Intervention: Enables prompt initiation of immunoglobulin replacement therapy
- Personalized Treatment: Guides targeted management strategies based on specific genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Preventive Care: Facilitates proactive management to prevent serious infections
- Accurate Diagnosis: Confirms XLA diagnosis, differentiating it from other immunodeficiency disorders
- Improved Outcomes: Early diagnosis correlates with better long-term health outcomes
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your BTK gene analysis:
- Positive Result: Indicates a pathogenic mutation in the BTK gene, confirming X-linked agammaglobulinemia diagnosis
- Negative Result: Suggests no detectable BTK mutation, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: For female relatives, indicates whether they carry the XLA mutation
All results include detailed genetic counseling recommendations and are reviewed by our board-certified genetic specialists. The turnaround time for results is typically 3-4 weeks from sample receipt.
Test Pricing and Sample Requirements
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | BTK Gene Agammaglobulinemia Type 1 X-Linked NGS Genetic DNA Test | – |
| Discount Price | Limited time special offer | $500 |
| Regular Price | Standard pricing | $700 |
| Sample Type | Blood, Extracted DNA, or One drop Blood on FTA Card | – |
| Turnaround Time | Comprehensive analysis period | 3-4 Weeks |
Pre-Test Preparation and Requirements
To ensure optimal testing accuracy, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree
- Review of previous immunological testing results
- Discussion of testing implications with healthcare provider
- Informed consent process for genetic testing
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 other cities. Our network of certified collection centers ensures accessible testing nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about immune health concerns affect your quality of life. Our BTK Gene Agammaglobulinemia Type 1 X-Linked NGS Genetic DNA Test provides definitive answers and empowers informed healthcare decisions. Early genetic diagnosis can significantly improve treatment outcomes and quality of life for individuals with X-linked agammaglobulinemia.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our dedicated genetic specialists are ready to guide you through every step of the testing process and provide comprehensive support for your genetic health journey.
