CYBA Gene Granulomatous Disease Chronic Autosomal Recessive Cytochrome B-Negative NGS Genetic DNA Test
Comprehensive Introduction to CYBA Gene Testing
The CYBA Gene Granulomatous Disease NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with chronic granulomatous disease (CGD). This specialized test focuses on the CYBA gene, which encodes the alpha subunit of cytochrome b558, a critical component of the NADPH oxidase complex in phagocytic cells. When mutations occur in this gene, they disrupt the proper functioning of the immune system’s frontline defense mechanisms, leading to the characteristic symptoms of CGD.
Chronic granulomatous disease is a rare inherited immunodeficiency disorder that primarily affects the body’s ability to combat specific types of bacterial and fungal infections. The autosomal recessive inheritance pattern means that both copies of the CYBA gene must carry mutations for the disease to manifest. Our advanced NGS (Next-Generation Sequencing) technology provides unparalleled accuracy in detecting these genetic variations, enabling precise diagnosis and informed treatment decisions.
What This Test Measures and Detects
Our comprehensive CYBA gene analysis specifically targets:
- Complete sequencing of the CYBA gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of splice site variants affecting gene expression
- Assessment of cytochrome b-negative mutations
- Comprehensive analysis of autosomal recessive inheritance patterns
The test utilizes state-of-the-art NGS technology to examine the entire CYBA gene locus, ensuring no potential mutation goes undetected. This thorough approach provides clinicians with the detailed genetic information necessary for accurate diagnosis and personalized treatment planning.
Who Should Consider CYBA Gene Testing
Clinical Indications and Symptoms
This test is particularly recommended for individuals presenting with:
- Recurrent bacterial and fungal infections from early childhood
- Formation of granulomas in various organs and tissues
- Family history of chronic granulomatous disease
- Unexplained lymphadenopathy or hepatosplenomegaly
- Persistent skin infections, abscesses, or cellulitis
- Pneumonia caused by unusual pathogens
- Delayed separation of the umbilical cord in infancy
- Autoimmune manifestations or inflammatory complications
High-Risk Populations
Individuals with consanguineous parents or those from populations with higher carrier frequencies for CYBA mutations should consider genetic testing. Additionally, siblings of diagnosed CGD patients benefit from early screening to identify asymptomatic carriers or affected individuals before clinical symptoms develop.
Significant Benefits of CYBA Genetic Testing
Undergoing CYBA gene testing provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out chronic granulomatous disease with high precision
- Early Intervention: Enables proactive management before severe complications develop
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides appropriate antimicrobial prophylaxis and therapy
- Prognostic Information: Helps predict disease severity and potential complications
- Carrier Detection: Identifies asymptomatic family members who may benefit from monitoring
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive test report provides clear interpretation of results:
- Positive Result: Identifies pathogenic mutations in both CYBA gene copies, confirming chronic granulomatous disease diagnosis
- Carrier Status: Detection of a single mutation indicates carrier status without disease manifestation
- Negative Result: No CYBA mutations detected, significantly reducing likelihood of CGD
- Variant of Uncertain Significance: Rare genetic changes requiring further clinical correlation
Clinical Implications
Positive results warrant immediate consultation with a hematologist and immunologist for comprehensive management. Carrier status information is valuable for family planning discussions. All results are accompanied by detailed explanations and recommendations for next steps.
Test Pricing and Details
| 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 Accessibility and Booking
We maintain comprehensive testing facilities across the United States, with branches in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures convenient access to advanced genetic testing regardless of your location.
To schedule your CYBA Gene Granulomatous Disease NGS Genetic DNA Test or to speak with our genetic counseling team, contact us today at +1(267) 388-9828. Our dedicated healthcare professionals are available to answer your questions, discuss pre-test requirements, and guide you through the testing process.
Pre-Test Preparation
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their meanings
Take the first step toward accurate diagnosis and effective management of chronic granulomatous disease. Book your CYBA genetic test today and gain the clarity needed for informed healthcare decisions.
