NCF1 Gene Granulomatous Disease Chronic Autosomal Recessive Cytochrome b Positive Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Chronic Granulomatous Disease
The NCF1 Gene Granulomatous Disease NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with chronic granulomatous disease (CGD), specifically the autosomal recessive cytochrome b positive type 1 variant. This sophisticated genetic analysis provides crucial insights into immune system deficiencies that can significantly impact patient health and treatment strategies.
What This Advanced Genetic Test Measures
Our NCF1 gene test specifically targets mutations in the neutrophil cytosolic factor 1 (NCF1) gene, which encodes the p47phox protein component of the NADPH oxidase complex. This complex is essential for generating reactive oxygen species that help immune cells destroy invading pathogens. The test utilizes next-generation sequencing technology to:
- Identify pathogenic variants in the NCF1 gene
- Detect single nucleotide polymorphisms and copy number variations
- Analyze the complete coding regions and splice sites
- Provide comprehensive mutation profiling for accurate diagnosis
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with symptoms suggestive of chronic granulomatous disease, including:
- Recurrent bacterial and fungal infections, particularly involving the lungs, skin, and lymph nodes
- Granuloma formation in various organs
- Family history of CGD or unexplained infant deaths
- Persistent inflammation and autoimmune manifestations
- Unexplained lymphadenopathy or hepatosplenomegaly
- Children with failure to thrive and recurrent infections
Significant Benefits of Early Genetic Diagnosis
Undergoing the NCF1 gene test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out CGD with high precision
- Personalized Treatment: Enables targeted therapeutic interventions
- Family Planning: Provides crucial information for genetic counseling
- Preventive Care: Facilitates proactive infection prevention strategies
- Improved Outcomes: Early intervention can significantly enhance quality of life
Understanding Your Genetic Test Results
Our comprehensive genetic analysis provides detailed insights into your NCF1 gene status:
- Positive Result: Indicates the presence of pathogenic mutations associated with CGD, requiring specialized medical management
- Negative Result: Suggests no detectable mutations in the NCF1 gene, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications that may require further investigation
All results are accompanied by detailed interpretation from our certified genetic counselors to ensure proper understanding and next steps.
Test Pricing and Availability
| Price Type | Amount (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 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 genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your health decisions. Our NCF1 Gene Granulomatous Disease NGS Genetic DNA Test provides the clarity and confidence you need for informed medical management. With our discounted price of $500 USD and comprehensive genetic counseling support, you can take proactive steps toward better health outcomes.
Ready to schedule your genetic test? Call our dedicated genetic counseling team at +1(267) 388-9828 or book your appointment online today. Our specialists are available to answer your questions and guide you through the testing process with compassion and expertise.
