IRAK4 Gene Deficiency NGS Genetic DNA Test
Comprehensive Genetic Analysis for Immune System Disorders
The IRAK4 Gene Deficiency NGS Genetic DNA Test represents a cutting-edge diagnostic approach to identifying genetic mutations in the IRAK4 gene, which encodes interleukin-1 receptor-associated kinase 4. This crucial protein plays a fundamental role in the innate immune response pathway, specifically in Toll-like receptor (TLR) and interleukin-1 receptor (IL-1R) signaling. When IRAK4 function is compromised due to genetic mutations, individuals become highly susceptible to recurrent bacterial infections, particularly those caused by pyogenic bacteria such as Streptococcus pneumoniae and Staphylococcus aureus.
What Does the IRAK4 Gene Test Measure?
This advanced genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the entire IRAK4 gene for:
- Point mutations and single nucleotide variants
- Insertions and deletions (indels)
- Copy number variations
- Structural rearrangements affecting gene function
- Regulatory region mutations impacting gene expression
The test specifically examines the coding regions, splice sites, and regulatory elements of the IRAK4 gene to identify pathogenic variants that disrupt normal immune signaling pathways.
Who Should Consider IRAK4 Genetic Testing?
This test is particularly recommended for individuals presenting with:
- Recurrent invasive bacterial infections in childhood
- Unexplained recurrent fevers without clear infectious etiology
- Family history of primary immunodeficiency disorders
- Poor response to conventional antibiotic treatments
- History of severe infections with pyogenic bacteria
- Consanguineous family background with immune disorders
- Unexplained inflammatory conditions affecting multiple systems
Clinical Benefits of IRAK4 Genetic Testing
Undergoing IRAK4 genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out IRAK4 deficiency as the underlying cause of immune dysfunction
- Personalized Treatment: Guides targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Proactive Management: Enables early intervention and preventive measures for at-risk family members
- Improved Outcomes: Facilitates appropriate antimicrobial prophylaxis and vaccination strategies
- Reduced Diagnostic Uncertainty: Eliminates prolonged diagnostic odysseys and unnecessary testing
Understanding Your Test Results
Your IRAK4 genetic test results will be carefully interpreted by our expert geneticists and immunologists:
- Positive Result: Indicates the presence of pathogenic mutations in the IRAK4 gene, confirming the diagnosis of IRAK4 deficiency. This result provides clear guidance for targeted management strategies.
- Negative Result: Suggests no disease-causing mutations were detected in the IRAK4 gene, though other genetic or acquired immune deficiencies may need consideration.
- Variant of Uncertain Significance (VUS): Identifies genetic changes whose clinical significance is currently unknown. Additional family studies may be recommended.
- Carrier Status: For autosomal recessive forms, identifies individuals who carry one copy of a mutated gene without showing symptoms.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | IRAK4 Gene Deficiency 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 |
Nationwide Testing Availability
We have conveniently located branches across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Pre-Test Requirements
Before undergoing the IRAK4 genetic test, patients should provide:
- Complete clinical history detailing immune-related symptoms and infections
- Participation in a genetic counseling session to discuss test implications
- Development of a detailed pedigree chart documenting family members affected by immune disorders
- Informed consent understanding the potential outcomes and limitations of genetic testing
Take Control of Your Immune Health Today
Don’t let unexplained immune symptoms compromise your quality of life. The IRAK4 Gene Deficiency NGS Genetic DNA Test provides definitive answers and clear direction for managing immune health. Our expert team of genetic counselors and immunology specialists are ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your IRAK4 genetic test. Take the first step toward understanding your immune health and accessing personalized treatment strategies.
