IL2RG Gene Combined Immunodeficiency X-Linked Moderate NGS Genetic DNA Test
Comprehensive Introduction to IL2RG Genetic Testing
The IL2RG Gene Combined Immunodeficiency X-Linked Moderate NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing inherited immune system disorders. This advanced genetic analysis specifically targets the IL2RG gene, which plays a critical role in immune cell development and function. When mutations occur in this gene, they can lead to X-linked combined immunodeficiency disorders that significantly impact an individual’s ability to fight infections and maintain immune homeostasis.
Understanding your genetic predisposition to immune deficiencies is crucial for early intervention and personalized treatment planning. Our comprehensive testing approach utilizes cutting-edge Next-Generation Sequencing technology to provide the most accurate and detailed analysis available, helping patients and healthcare providers make informed decisions about long-term health management.
What This Test Measures and Detects
The IL2RG Gene Test employs sophisticated NGS technology to identify specific genetic mutations associated with X-linked combined immunodeficiency disorders. The test specifically analyzes:
- Complete sequencing of the IL2RG gene to detect point mutations, insertions, and deletions
- Identification of pathogenic variants that disrupt interleukin-2 receptor gamma chain function
- Assessment of genetic changes affecting T-cell, B-cell, and natural killer cell development
- Detection of X-linked inheritance patterns that predominantly affect males
- Comprehensive analysis of gene regions critical for immune system signaling
Who Should Consider This Genetic Test
This advanced genetic testing is recommended for individuals presenting with specific clinical indications or family history patterns:
Clinical Symptoms Indicating Testing
- Recurrent severe bacterial, viral, or fungal infections in infancy or childhood
- Failure to thrive and persistent diarrhea in male infants
- Autoimmune manifestations including cytopenias and inflammatory conditions
- Unusual susceptibility to opportunistic infections
- Family history of early childhood deaths due to infections in male relatives
- Unexplained eczema-like skin rashes with immune dysfunction
Family History Considerations
- Males with maternal family history of immune disorders
- Women considering pregnancy with family history of X-linked immune deficiencies
- Individuals with affected male relatives requiring carrier testing
- Families seeking prenatal diagnosis for at-risk pregnancies
Significant Benefits of IL2RG Genetic Testing
Undergoing IL2RG genetic testing provides numerous advantages for patients and families:
- Early Diagnosis and Intervention: Enables prompt treatment before severe complications develop
- Personalized Treatment Planning: Guides targeted therapies including immunoglobulin replacement and antibiotic prophylaxis
- Family Planning Guidance: Provides crucial information for reproductive decisions and genetic counseling
- Improved Quality of Life: Helps manage symptoms and prevent serious infections through proactive care
- Hematopoietic Stem Cell Transplant Planning: Essential information for considering curative treatment options
- Reduced Diagnostic Uncertainty: Provides definitive answers after years of unexplained symptoms
Understanding Your Test Results
Interpreting IL2RG genetic test results requires professional medical guidance, but here’s a general overview of potential outcomes:
Positive Result Interpretation
A positive result indicates the presence of a pathogenic mutation in the IL2RG gene. This confirms the diagnosis of X-linked combined immunodeficiency and provides specific information about the genetic variant. Your healthcare provider will discuss:
- Specific mutation characteristics and their clinical significance
- Recommended treatment protocols and monitoring schedules
- Family testing recommendations and carrier identification
- Long-term management strategies and specialist referrals
Negative Result Interpretation
A negative result suggests no pathogenic mutations were detected in the IL2RG gene. However, this doesn’t completely rule out immune deficiency disorders, as other genetic or non-genetic factors may be involved. Further evaluation may be recommended if clinical symptoms persist.
Variant of Uncertain Significance
Some results may identify genetic changes with unknown clinical significance. In these cases, ongoing research and family studies may help clarify the variant’s impact over time.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| 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. Our state-of-the-art facilities in New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose ensure accessible genetic testing for everyone. Additional satellite locations provide coverage in suburban and rural communities, making advanced genetic diagnostics available nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about immune health concerns affect your quality of life. Our IL2RG Gene Combined Immunodeficiency X-Linked Moderate NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or convenient FTA card testing, getting started is simple and accessible.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our expert genetic counselors are available to discuss your family history, explain the testing process, and help you understand how this advanced genetic analysis can benefit your health journey.
Remember to bring your clinical history and be prepared for a comprehensive genetic counseling session that includes creating a detailed family pedigree chart. This essential pre-test preparation ensures the most accurate and meaningful results for your specific situation.
