AICDA Gene Immunodeficiency Type 2 with Hyper IgM NGS Genetic DNA Test
Comprehensive Introduction to AICDA Gene Testing
The AICDA Gene Immunodeficiency Type 2 with Hyper IgM NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for immune system disorders. This advanced testing methodology focuses on the AICDA (Activation-Induced Cytidine Deaminase) gene, which plays a critical role in antibody diversification and class switching. When mutations occur in this gene, individuals develop Hyper IgM Syndrome Type 2, a rare primary immunodeficiency disorder characterized by impaired immunoglobulin class switching and somatic hypermutation.
This test is particularly important because early diagnosis of AICDA gene mutations can significantly impact treatment outcomes and quality of life. The condition affects multiple body systems, including dermatological, osteological, and immunological functions, making comprehensive genetic testing essential for accurate diagnosis and management.
What the Test Measures and Detects
The AICDA Gene Immunodeficiency Type 2 test utilizes Next Generation Sequencing (NGS) technology to comprehensively analyze the entire AICDA gene sequence. This sophisticated approach detects:
- Point mutations and single nucleotide variations in the AICDA gene
- Insertions and deletions that disrupt gene function
- Missense, nonsense, and frameshift mutations affecting protein structure
- Regulatory region variations impacting gene expression
- Compound heterozygous mutations contributing to disease severity
The test specifically identifies genetic abnormalities that prevent proper antibody class switching from IgM to IgG, IgA, and IgE, which is the hallmark of Hyper IgM Syndrome Type 2. This comprehensive analysis provides clinicians with precise genetic information to confirm diagnosis and guide therapeutic decisions.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with the following symptoms or clinical scenarios:
- Recurrent bacterial, viral, or fungal infections starting in childhood
- Persistent respiratory infections including pneumonia and sinusitis
- Chronic gastrointestinal issues and malabsorption problems
- Autoimmune manifestations affecting skin and joints
- Elevated IgM levels with low IgG, IgA, and IgE on immunologic testing
- Family history of primary immunodeficiency disorders
- Unexplained lymphadenopathy or hepatosplenomegaly
- Failure to thrive in pediatric patients with recurrent infections
- Dermatological conditions associated with immune dysfunction
- Osteological abnormalities in conjunction with immune symptoms
Significant Benefits of AICDA Genetic Testing
Undergoing the AICDA Gene Immunodeficiency Type 2 test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms Hyper IgM Syndrome Type 2 with genetic precision, eliminating diagnostic uncertainty
- Personalized Treatment: Enables targeted therapeutic approaches based on specific genetic mutations
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates prompt treatment initiation before severe complications develop
- Comprehensive Risk Assessment: Identifies associated risks for autoimmune disorders and malignancies
- Therapeutic Monitoring: Establishes baseline genetic information for evaluating treatment efficacy
- Research Contribution: Advances understanding of AICDA-related immunodeficiency disorders
Understanding Your Test Results
Interpretation Guidance
Your AICDA gene test results will be carefully analyzed and interpreted by our team of genetic specialists. Here’s what you can expect:
- Positive Result: Identification of pathogenic mutations confirms Hyper IgM Syndrome Type 2 diagnosis, requiring comprehensive immunological management
- Negative Result: No AICDA gene mutations detected, suggesting alternative causes for immunodeficiency symptoms
- Variant of Uncertain Significance: Genetic changes with unclear clinical impact may require additional family studies
- Carrier Status: Identification of individuals carrying one mutated AICDA gene copy with implications for family planning
All results include detailed clinical correlation and recommendations for follow-up care. Our genetic counselors provide comprehensive explanations and support for understanding your specific genetic findings and their implications for your health management.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood
Test Methodology: Next Generation Sequencing (NGS) Technology
Nationwide Testing Availability
We proudly offer the AICDA Gene Immunodeficiency Type 2 with Hyper IgM NGS Genetic DNA Test across our extensive network of testing facilities throughout the United States. Our state-of-the-art laboratories serve patients in all major metropolitan areas including:
- New York City and surrounding tri-state area
- Los Angeles and Southern California region
- Chicago and Midwest locations
- Houston and Texas medical centers
- Phoenix and Southwest facilities
- Philadelphia and Northeast centers
- All other major US cities and regions
Pre-Test Preparation Requirements
To ensure optimal testing accuracy and comprehensive evaluation, we require:
- Complete clinical history documentation for patients undergoing AICDA gene testing
- Genetic counseling session to create detailed pedigree chart of family members affected by AICDA Gene Immunodeficiency Type 2
- Review of previous immunological testing and clinical findings
- Discussion of test implications and potential outcomes
Take Action for Your Health Today
Don’t let uncertainty about immune system disorders compromise your quality of life. The AICDA Gene Immunodeficiency Type 2 with Hyper IgM NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and effective treatment planning. Our specialized team of geneticists, immunologists, and dermatologists are ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your comprehensive genetic evaluation. Take control of your health with advanced genetic testing from America’s leading diagnostics provider.
