CD40LG Gene Immunodeficiency X-Linked with Hyper-IgM NGS Genetic DNA Test
Comprehensive Genetic Analysis for Immune System Disorders
The CD40LG Gene Immunodeficiency X-Linked with Hyper-IgM NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare immune disorders. This advanced genetic screening utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the CD40LG gene, which plays a critical role in immune system regulation and antibody production.
What This Test Measures and Detects
This sophisticated genetic analysis specifically targets the CD40LG gene located on the X chromosome, examining it for:
- Point mutations affecting protein function
- Deletions and insertions disrupting gene expression
- Frameshift mutations altering protein structure
- Splice site variants affecting mRNA processing
- Regulatory region abnormalities impacting gene expression
Clinical Importance and Scientific Foundation
The CD40LG gene encodes the CD40 ligand protein, essential for proper communication between T-cells and B-cells in the immune system. Mutations in this gene disrupt the crucial CD40-CD40L signaling pathway, leading to impaired immunoglobulin class switching. This results in elevated IgM levels with deficient IgG, IgA, and IgE production, characteristic of X-linked hyper-IgM syndrome.
Who Should Consider This Genetic Test
This comprehensive genetic analysis is recommended for individuals presenting with:
- Recurrent bacterial, fungal, or opportunistic infections
- Unexplained elevated IgM levels with low other immunoglobulins
- Family history of X-linked immunodeficiency disorders
- Autoimmune manifestations alongside immune deficiency
- Chronic respiratory infections or gastrointestinal complications
- Failure to thrive in pediatric patients with immune concerns
- Unexplained neutropenia or hematological abnormalities
Key Symptoms and Clinical Indicators
Patients experiencing persistent symptoms including recurrent pneumonia, chronic diarrhea, oral ulcers, skin rashes, or unusual susceptibility to infections should consider this genetic evaluation. Early diagnosis is crucial for implementing appropriate prophylactic treatments and preventing long-term complications.
Benefits of CD40LG Genetic Testing
- Accurate Diagnosis: Provides definitive molecular confirmation of X-linked hyper-IgM syndrome
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely implementation of infection prevention strategies
- Comprehensive Care: Supports multidisciplinary management involving immunologists and genetic specialists
- Prognostic Insights: Helps predict disease progression and potential complications
Understanding Your Test Results
Your genetic test report will provide detailed information about CD40LG gene variants identified through NGS analysis. Results typically fall into these categories:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the CD40LG gene, confirming the diagnosis of X-linked hyper-IgM syndrome. This finding enables:
- Implementation of immunoglobulin replacement therapy
- Prophylactic antibiotic regimens
- Regular monitoring for associated complications
- Family member testing and genetic counseling
Negative Result Implications
A negative result suggests no disease-causing mutations were detected in the CD40LG gene. However, clinical correlation remains essential, as other genetic or acquired conditions may present with similar symptoms.
Variant of Uncertain Significance
Some genetic changes may be classified as variants of uncertain significance (VUS), requiring additional family studies and clinical correlation for proper interpretation.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Pre-Test Requirements
Before testing, patients should provide:
- Complete clinical history relevant to CD40LG Gene Immunodeficiency
- Participation in genetic counseling session
- Detailed pedigree chart of affected family members
- Documentation of previous immunological evaluations
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with specialized facilities 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 genetic counselors and immunology specialists ensures you receive expert care regardless of your location.
Take Control of Your Health Today
Early genetic diagnosis of CD40LG Gene Immunodeficiency can significantly improve quality of life and treatment outcomes. Our advanced NGS technology provides the most accurate genetic analysis available, empowering you and your healthcare team with critical diagnostic information.
Ready to schedule your CD40LG Genetic DNA Test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
Don’t let uncertainty about your immune health continue. Take the first step toward definitive diagnosis and personalized care management with our comprehensive CD40LG Gene Immunodeficiency testing service.
