CYBB Gene Granulomatous Disease Chronic X-Linked NGS Genetic DNA Test

Comprehensive Genetic Testing for Chronic Granulomatous Disease

The CYBB Gene Granulomatous Disease Chronic X-Linked NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the CYBB gene, which encodes the gp91-phox subunit of the NADPH oxidase complex. This sophisticated genetic analysis plays a crucial role in diagnosing X-linked chronic granulomatous disease (CGD), a rare primary immunodeficiency disorder affecting approximately 1 in 200,000 to 250,000 individuals worldwide. The test’s importance extends beyond mere diagnosis, providing essential information for treatment planning, genetic counseling, and family risk assessment.

What Does This Test Measure and Detect?

This advanced genetic test specifically targets the CYBB gene located on the X chromosome, utilizing next-generation sequencing (NGS) technology to comprehensively analyze the entire coding region and flanking intronic sequences. The test detects:

• Pathogenic mutations in the CYBB gene affecting NADPH oxidase function
• Single nucleotide variants, insertions, and deletions
• Splice site mutations that disrupt proper protein production
• Frameshift mutations leading to premature protein termination
• Missense mutations affecting critical functional domains

The CYBB gene mutations identified through this testing impair the phagocyte respiratory burst, compromising the immune system’s ability to generate reactive oxygen species necessary for killing ingested pathogens.

Who Should Consider This Genetic Test?

This specialized genetic test is recommended for individuals presenting with clinical symptoms suggestive of chronic granulomatous disease or those with concerning family history:

• Recurrent bacterial and fungal infections, particularly involving catalase-positive organisms
• Persistent lymphadenopathy, hepatosplenomegaly, or granuloma formation
• Family history of X-linked immunodeficiency disorders
• Unexplained inflammatory complications or autoimmune manifestations
• Male infants with recurrent infections and failure to thrive
• Individuals with abnormal dihydrorhodamine (DHR) flow cytometry results
• Patients with suspicious findings on nitroblue tetrazolium (NBT) testing

Significant Benefits of CYBB Genetic Testing

Undergoing CYBB gene testing provides numerous clinical advantages for patients and healthcare providers:

• Accurate Diagnosis: Confirms X-linked chronic granulomatous disease with high specificity
• Early Intervention: Enables prompt initiation of prophylactic antibiotics and antifungal therapy
• Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
• Treatment Optimization: Guides appropriate management strategies including interferon-gamma therapy
• Stem Cell Transplant Consideration: Identifies candidates who may benefit from curative hematopoietic stem cell transplantation
• Carrier Detection: Identifies female carriers who may pass the mutation to male offspring

Understanding Your Test Results

Test results are typically available within 3 to 4 weeks and are interpreted by board-certified genetic specialists:

• Positive Result: Indicates the presence of a pathogenic CYBB gene mutation confirming X-linked CGD diagnosis
• Negative Result: Suggests absence of detectable CYBB mutations, though other genetic forms of CGD should be considered
• Variant of Uncertain Significance: Requires additional family studies and functional analysis for proper interpretation
• Carrier Status: For female relatives, identifies those carrying the X-linked mutation

All positive results are accompanied by detailed genetic counseling to discuss implications, management options, and family testing recommendations.

Test Pricing and Sample Requirements

Pre-Test Preparation and Requirements

Before undergoing CYBB genetic testing, patients should provide:

• Complete clinical history documenting infection patterns and immune-related symptoms
• Participation in genetic counseling session to discuss test implications
• Development of detailed pedigree chart identifying family members affected by immune disorders
• Informed consent acknowledging potential psychological and familial impacts
• Insurance pre-authorization when applicable

Nationwide Testing Availability

GGC DNA maintains comprehensive testing facilities across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and Charlotte. Our state-of-the-art laboratories ensure consistent, high-quality genetic testing services with rapid turnaround times.

Take Control of Your Genetic Health Today

Don’t let uncertainty about immune health compromise your quality of life. The CYBB Gene Granulomatous Disease Chronic X-Linked NGS Genetic DNA Test provides definitive answers and empowers informed healthcare decisions. Our experienced genetic counselors and hematology specialists are available to guide you through the testing process and result interpretation.

Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward comprehensive immune health assessment.