NCF4 Gene Granulomatous Disease Chronic Autosomal Recessive Cytochrome b-Positive Type 3 NGS Genetic DNA Test
Comprehensive Genetic Testing for Chronic Granulomatous Disease Type 3
The NCF4 Gene Granulomatous Disease DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with chronic granulomatous disease type 3. This specialized genetic test utilizes Next-Generation Sequencing (NGS) technology to provide comprehensive analysis of the NCF4 gene, which plays a critical role in the proper functioning of the immune system.
What is Chronic Granulomatous Disease Type 3?
Chronic granulomatous disease (CGD) type 3 is a rare inherited immunodeficiency disorder characterized by the immune system’s inability to effectively combat certain bacterial and fungal infections. The condition results from mutations in the NCF4 gene, which encodes the p40phox subunit of the NADPH oxidase complex. This complex is essential for phagocytes to produce reactive oxygen species that destroy invading pathogens.
What Does This Test Measure and Detect?
Our advanced NGS Genetic DNA Test specifically targets:
- Complete sequencing of the NCF4 gene to identify pathogenic variants
- Detection of autosomal recessive mutations affecting cytochrome b-positive function
- Identification of single nucleotide variants, insertions, and deletions
- Comprehensive analysis of gene regions critical for NADPH oxidase assembly
- Assessment of mutation impact on protein structure and function
Technical Excellence in Genetic Analysis
Utilizing state-of-the-art Next-Generation Sequencing technology, our test provides unparalleled accuracy in detecting even the most subtle genetic variations. The comprehensive coverage ensures no critical mutation goes undetected, offering patients and healthcare providers complete diagnostic confidence.
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Recurrent bacterial or fungal infections despite appropriate treatment
- Unexplained granuloma formation in various organs
- Family history of chronic granulomatous disease or immunological disorders
- Persistent lymphadenopathy or hepatosplenomegaly
- Chronic inflammatory conditions affecting skin, bones, or lungs
- Diagnostic uncertainty in patients with immunodeficiency symptoms
- Children with failure to thrive and recurrent infections
Specialty Referral Considerations
Patients typically referred by dermatologists, immunologists, or genetic specialists who suspect underlying genetic causes for persistent inflammatory or infectious conditions. The test is particularly valuable when routine immunological testing yields inconclusive results.
Benefits of NCF4 Gene Testing
Comprehensive Diagnostic Advantages
- Precise Diagnosis: Provides definitive identification of NCF4 gene mutations
- Early Intervention: Enables proactive management before severe complications develop
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Treatment Guidance: Informs targeted therapeutic approaches and infection prevention strategies
- Prognostic Value: Helps predict disease course and potential complications
- Research Contribution: Advances understanding of rare immunological disorders
Clinical Management Improvements
Early genetic diagnosis allows for implementation of preventive measures, including prophylactic antibiotics, antifungal medications, and interferon-gamma therapy when appropriate. It also facilitates regular monitoring for disease complications and timely intervention.
Understanding Your Test Results
Interpretation Guidelines
Test results are provided with comprehensive interpretation by our team of genetic specialists:
- Positive Result: Identification of pathogenic mutations confirms diagnosis of chronic granulomatous disease type 3
- Negative Result: No detected mutations in NCF4 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identification of single mutation indicates carrier status without disease manifestation
Post-Test Genetic Counseling
All positive results include detailed genetic counseling sessions to help patients and families understand the implications, inheritance patterns, and management strategies. Our genetic counselors provide ongoing support for treatment decisions and family planning considerations.
Test Specifications and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | NCF4 Gene Granulomatous Disease Chronic Autosomal Recessive Cytochrome b-Positive Type 3 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) |
| Specialty | Dermatology, Genetics, Immunology |
Pre-Test Requirements and Preparation
Essential Documentation
Prior to testing, patients should provide:
- Complete clinical history detailing symptoms and previous treatments
- Family medical history with emphasis on immunological disorders
- Results of previous immunological or genetic testing
- Referral from treating physician with clinical suspicion
Genetic Counseling Session
All patients undergo comprehensive genetic counseling that includes:
- Detailed pedigree analysis of family members
- Explanation of test methodology and limitations
- Discussion of potential results and their implications
- Informed consent process for genetic testing
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 more. Our network of certified collection centers ensures accessible testing regardless of your location.
Convenient Sample Collection Options
Choose from multiple sample collection methods to suit your needs:
- In-person blood draw at our certified collection centers
- Mobile phlebotomy services for home-bound patients
- DNA extraction from previously stored samples
- Simple blood spot collection on FTA cards for remote testing
Take Control of Your Genetic Health Today
Don’t let uncertainty about your immunological health continue. Our NCF4 Gene Granulomatous Disease DNA Test provides the answers you need for proper diagnosis and management. With our discounted price of $500 USD and comprehensive genetic counseling support, you can make informed decisions about your health care.
Ready to schedule your 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.
Take the first step toward understanding your genetic predisposition to chronic granulomatous disease. Early detection through advanced genetic testing can significantly improve quality of life and treatment outcomes for affected individuals and their families.
