IL2 Gene Severe Combined Immunodeficiency Due to IL2 Deficiency NGS Genetic DNA Test
Understanding Severe Combined Immunodeficiency and IL2 Deficiency
Severe Combined Immunodeficiency (SCID) represents a group of rare, life-threatening genetic disorders characterized by the absence of functional T lymphocytes and B lymphocytes, leaving affected individuals highly susceptible to severe infections. The IL2 Gene Severe Combined Immunodeficiency Due to IL2 Deficiency NGS Genetic DNA Test specifically targets mutations in the interleukin-2 (IL2) gene, which plays a critical role in immune system regulation and T-cell development.
What is IL2 and Its Role in Immunity?
Interleukin-2 (IL2) is a cytokine produced primarily by activated T cells that serves as a growth factor for T lymphocytes and natural killer cells. The IL2 gene provides instructions for making this essential protein, which is crucial for:
- Regulating immune system responses
- Promoting T-cell proliferation and differentiation
- Maintaining immune tolerance
- Supporting natural killer cell function
What Does This Test Measure and Detect?
Our advanced NGS Genetic DNA Test utilizes cutting-edge Next-Generation Sequencing technology to comprehensively analyze the IL2 gene for pathogenic variants associated with severe combined immunodeficiency. The test specifically detects:
- Point mutations in the IL2 gene coding regions
- Small insertions and deletions affecting gene function
- Regulatory region variants impacting IL2 expression
- Novel mutations previously unidentified
Technical Specifications
This comprehensive genetic analysis employs:
- High-coverage NGS sequencing (minimum 100x coverage)
- Comprehensive analysis of all IL2 gene exons and flanking regions
- Advanced bioinformatics pipeline for variant calling
- Clinical interpretation by board-certified geneticists
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with symptoms suggestive of severe combined immunodeficiency or those with concerning family history. Key indications include:
Clinical Symptoms and Presentations
- Infants with failure to thrive and recurrent severe infections
- Persistent fungal, viral, or bacterial infections unresponsive to treatment
- Chronic diarrhea and malabsorption issues
- Severe skin rashes or eczema-like presentations
- Opportunistic infections in otherwise healthy individuals
- Family history of early childhood mortality due to infections
At-Risk Populations
- Newborns with abnormal TREC (T-cell receptor excision circle) screening
- Individuals with unexplained lymphopenia
- Patients with suspected primary immunodeficiency disorders
- Family members of diagnosed SCID patients
Benefits of IL2 Gene Testing
Undergoing genetic testing for IL2 deficiency provides numerous clinical and personal benefits:
Diagnostic Clarity and Precision
- Definitive molecular diagnosis of IL2-related SCID
- Differentiation from other forms of immunodeficiency
- Accurate genetic counseling for family planning
- Early intervention and treatment planning
Clinical Management Advantages
- Guided treatment decisions including bone marrow transplantation
- Personalized infection prevention strategies
- Appropriate vaccination recommendations
- Monitoring for associated complications
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information to guide your healthcare decisions:
Positive Result Interpretation
A positive result indicates the presence of pathogenic variants in the IL2 gene associated with severe combined immunodeficiency. This finding:
- Confirms the genetic basis of immune deficiency
- Provides information for targeted treatment approaches
- Enables carrier testing for family members
- Supports eligibility for specialized treatments and clinical trials
Negative Result Interpretation
A negative result suggests that no pathogenic IL2 gene variants were detected. However, this does not completely rule out immunodeficiency, as:
- Other genetic causes of SCID may be present
- Rare variants in regulatory regions may not be detected
- Additional immunological testing may be necessary
Variant of Uncertain Significance (VUS)
Some genetic changes may be classified as VUS, requiring:
- Additional family studies for clarification
- Ongoing research correlation
- Periodic re-evaluation as knowledge advances
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Service Details
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Pre-test Requirements: Clinical History and Genetic Counseling Session
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 for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about immune health concerns affect your quality of life. Our IL2 Gene Severe Combined Immunodeficiency Due to IL2 Deficiency NGS Genetic DNA Test provides the clarity and answers you need for informed healthcare decisions. Early diagnosis can significantly impact treatment outcomes and quality of life for individuals with immunodeficiency disorders.
Ready to Schedule Your Test?
Contact our genetic specialists today to discuss your testing needs and schedule an appointment. Our team is available to answer your questions and guide you through the testing process.
Call or WhatsApp: +1(267) 388-9828
Book your comprehensive genetic evaluation and take the first step toward understanding your immune health with confidence and precision.
