NCF2 Gene Granulomatous Disease Chronic Autosomal Recessive Cytochrome b-Positive Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Chronic Granulomatous Disease Type 2
The NCF2 Gene Granulomatous Disease Chronic Autosomal Recessive Cytochrome b-Positive Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the NCF2 gene, which encodes the p67-phox protein essential for proper immune system function. This sophisticated genetic analysis plays a vital role in diagnosing chronic granulomatous disease (CGD), a rare inherited immunodeficiency disorder affecting approximately 1 in 200,000 to 250,000 individuals worldwide.
What This Advanced Genetic Test Detects
Our comprehensive NGS genetic DNA test specifically targets mutations in the NCF2 gene located on chromosome 1q25. This gene provides instructions for making the p67-phox protein, a crucial component of the NADPH oxidase complex responsible for producing superoxide radicals that help immune cells destroy invading pathogens. The test identifies:
- Point mutations, insertions, and deletions in the NCF2 gene
- Autosomal recessive inheritance patterns
- Cytochrome b-positive type 2 CGD variants
- Carrier status for family members
- Specific genetic markers associated with disease severity
Who Should Consider This Genetic Test?
This specialized genetic testing is recommended for individuals presenting with symptoms suggestive of chronic granulomatous disease or those with a family history of immune disorders. Key indications include:
- Recurrent bacterial and fungal infections, particularly affecting the lungs, skin, and lymph nodes
- Formation of granulomas in various organs
- Family history of CGD or unexplained immune deficiencies
- Persistent inflammation without clear infectious causes
- Abnormal neutrophil function test results
- Children with failure to thrive and recurrent infections
- Individuals with autoimmune manifestations alongside infection susceptibility
Significant Benefits of Early Genetic Diagnosis
Undergoing the NCF2 Gene Granulomatous Disease test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms CGD type 2 with precise genetic evidence
- Personalized Treatment: Enables targeted therapeutic approaches including prophylactic antibiotics and antifungal medications
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates prompt management before serious complications develop
- Improved Prognosis: Early diagnosis correlates with better long-term outcomes and quality of life
- Comprehensive Care Planning: Supports multidisciplinary management involving immunologists, geneticists, and infectious disease specialists
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your NCF2 gene test results:
- Positive Result: Indicates the presence of pathogenic mutations in both copies of the NCF2 gene, confirming chronic granulomatous disease type 2 diagnosis
- Carrier Status: Identifies individuals with one mutated copy who are typically asymptomatic but can pass the condition to offspring
- Negative Result: Suggests absence of known NCF2 mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation for proper interpretation
Test Pricing and Availability
| 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
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient 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 state-of-the-art laboratories ensure consistent, reliable results regardless of your location.
Take Control of Your Genetic Health Today
Early genetic diagnosis of NCF2 Gene Granulomatous Disease can significantly impact treatment outcomes and quality of life. Our experienced genetic counselors and medical specialists are ready to guide you through the testing process and provide comprehensive support for your healthcare journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic consultation and testing appointment. Our dedicated team will assist you with insurance pre-authorization, sample collection coordination, and result interpretation to ensure you receive the highest quality genetic care available.
