NCF2 Gene Granulomatous Disease Chronic Autosomal Recessive Cytochrome b-Positive Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Chronic Granulomatous Disease
The NCF2 Gene Granulomatous Disease DNA Test represents a breakthrough in genetic diagnostics for individuals affected by chronic granulomatous disease (CGD). This sophisticated Next-Generation Sequencing (NGS) analysis specifically targets mutations in the NCF2 gene, which encodes the p67-phox protein essential for proper neutrophil function. When this gene contains pathogenic variants, it disrupts the NADPH oxidase complex, leading to impaired microbial killing capacity and the characteristic clinical manifestations of CGD.
What This Advanced Genetic Test Measures
Our comprehensive NGS-based analysis detects and characterizes mutations within the NCF2 gene that cause cytochrome b-positive type 2 chronic granulomatous disease. The test specifically identifies:
- Point mutations, insertions, and deletions in the NCF2 gene coding regions
- Splice site variants affecting mRNA processing
- Regulatory region abnormalities impacting gene expression
- Copy number variations and structural rearrangements
- Novel mutations not previously documented in medical literature
Who Should Consider NCF2 Genetic Testing?
This specialized genetic test is recommended for individuals presenting with clinical features suggestive of chronic granulomatous disease, including:
Clinical Indications and Symptoms
- Recurrent bacterial and fungal infections, particularly involving Staphylococcus aureus, Serratia marcescens, and Aspergillus species
- Persistent lymphadenopathy with suppurative lymphadenitis
- Hepatic or splenic abscesses without clear infectious etiology
- Chronic pneumonia or pulmonary infiltrates unresponsive to conventional therapy
- Granulomatous lesions in various organs including gastrointestinal tract, genitourinary system, and skin
- Family history of CGD or consanguineous parentage
- Abnormal neutrophil function tests such as dihydrorhodamine (DHR) flow cytometry
- Unexplained inflammatory conditions in childhood or early adulthood
Significant Benefits of NCF2 Genetic Testing
Undergoing NCF2 genetic analysis provides numerous advantages for patients and healthcare providers:
Diagnostic and Clinical Benefits
- Definitive Diagnosis: Confirms or rules out NCF2-related CGD with high accuracy
- Personalized Treatment: Guides targeted antimicrobial prophylaxis and management strategies
- Family Planning: Enables accurate genetic counseling and reproductive decision-making
- Prognostic Information: Helps predict disease severity and potential complications
- Early Intervention: Facilitates timely initiation of appropriate therapies before irreversible organ damage occurs
- Carrier Detection: Identifies asymptomatic carriers within affected families
- Stem Cell Transplant Planning: Provides essential genetic information for hematopoietic stem cell transplantation considerations
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your NCF2 test results with clarity and confidence:
Result Interpretation Guidelines
- Positive Result: Identification of pathogenic NCF2 mutations confirms diagnosis of cytochrome b-positive type 2 CGD, requiring specialized hematology and immunology management
- Negative Result: No NCF2 mutations detected suggests alternative causes for clinical symptoms, potentially indicating other CGD subtypes or different immunodeficiency disorders
- Variant of Uncertain Significance (VUS): Novel genetic changes require additional family studies and clinical correlation for proper interpretation
- Carrier Status: Identification of a single pathogenic mutation indicates carrier status with implications for family members and reproductive planning
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | NCF2 Gene Granulomatous Disease Chronic Autosomal Recessive Cytochrome b-Positive Type 2 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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 |
| Specialty | Hematology and Genetics |
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 cities. Our network of certified collection centers ensures accessible genetic testing services regardless of your location.
Take Control of Your Health Today
Don’t let uncertainty about chronic granulomatous disease affect your quality of life. Our specialized NCF2 genetic testing provides the clarity needed for proper diagnosis and management. With our discounted price of only $500 USD, advanced genetic diagnostics are more accessible than ever.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your NCF2 genetic test consultation and take the first step toward definitive diagnosis and personalized treatment planning.
Our experienced genetic counselors and hematology specialists are ready to guide you through the testing process, from pre-test counseling to comprehensive result interpretation and long-term management strategies.
