CD40 Gene Immunodeficiency Type 3 with Hyper-IgM NGS Genetic DNA Test
Understanding CD40 Gene Immunodeficiency Type 3
The CD40 Gene Immunodeficiency Type 3 with Hyper-IgM NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for primary immunodeficiency disorders. This comprehensive test specifically targets mutations in the CD40 gene, which plays a critical role in immune system function and antibody class switching. Hyper-IgM Syndrome Type 3 is a rare but serious condition characterized by impaired immune response, leading to recurrent infections and increased susceptibility to opportunistic pathogens.
What Does This Test Measure?
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the CD40 gene for pathogenic variants. The test specifically detects:
- Point mutations in the CD40 gene coding regions
- Insertions and deletions affecting gene function
- Splice site mutations that disrupt protein production
- Regulatory region variants impacting gene expression
- Compound heterozygous and homozygous mutations
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with the following clinical indications:
- Recurrent bacterial, viral, or fungal infections
- Elevated IgM levels with low IgG, IgA, and IgE
- Family history of immunodeficiency disorders
- Unexplained failure to thrive in infants and children
- Chronic diarrhea or gastrointestinal complications
- Autoimmune manifestations alongside immune deficiency
- History of opportunistic infections
- Abnormal lymphocyte counts or function
Clinical Symptoms and Indications
Patients with CD40 Gene Immunodeficiency Type 3 typically experience symptoms across multiple systems, including dermatological manifestations, osteological complications, and severe immunological challenges. Early diagnosis through genetic testing can significantly improve patient outcomes and guide appropriate therapeutic interventions.
Benefits of CD40 Genetic Testing
Undergoing the CD40 Gene Immunodeficiency Type 3 with Hyper-IgM NGS Genetic DNA Test offers numerous advantages:
- Precise Diagnosis: Provides definitive genetic confirmation of Hyper-IgM Syndrome Type 3
- Personalized Treatment: Enables targeted therapeutic approaches based on specific genetic mutations
- Family Planning: Offers valuable information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely management to prevent complications
- Comprehensive Analysis: NGS technology ensures thorough examination of the CD40 gene
- Clinical Correlation: Helps correlate genetic findings with clinical manifestations
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and clinical geneticists. Results typically fall into one of these categories:
- Positive Result: Identifies pathogenic variants in the CD40 gene, confirming diagnosis of Hyper-IgM Syndrome Type 3
- Negative Result: No disease-causing mutations detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Identifies individuals carrying one copy of a mutated gene
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | CD40 Gene Immunodeficiency Type 3 with Hyper-IgM 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 |
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history related to immunodeficiency symptoms
- Participation in genetic counseling session
- Detailed pedigree chart of family members affected by similar conditions
- Previous laboratory results and immunological assessments
Nationwide Testing Availability
We proudly offer the CD40 Gene Immunodeficiency Type 3 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 regions
- Los Angeles and Southern California
- Chicago and the Midwest
- Houston and Texas metropolitan areas
- Phoenix and Arizona communities
- Philadelphia and the Northeast corridor
- All other major US cities and regions
Take Control of Your Health Today
Don’t let uncertainty about your immune health continue. The CD40 Gene Immunodeficiency Type 3 with Hyper-IgM NGS Genetic DNA Test provides the clarity and confidence you need for proper diagnosis and treatment planning. Our team of genetic specialists is ready to guide you through the testing process and help interpret your results.
Ready to schedule your test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and achieving better immune system management.
