CYBA Gene Granulomatous Disease Chronic Autosomal Recessive Cytochrome b-Negative NGS Genetic DNA Test
Comprehensive Genetic Testing for Chronic Granulomatous Disease
The CYBA Gene Granulomatous Disease NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for immunodeficiency disorders. This advanced test specifically targets mutations in the CYBA gene, which encodes the p22phox subunit of the NADPH oxidase complex. When this gene malfunctions, it leads to chronic granulomatous disease (CGD), a rare inherited condition where immune cells called phagocytes cannot effectively kill certain types of bacteria and fungi.
What This Test Measures and Detects
Our NGS-based genetic test comprehensively analyzes the CYBA gene to identify:
- Point mutations, deletions, and insertions in the CYBA gene
- Autosomal recessive inheritance patterns
- Cytochrome b-negative variants affecting NADPH oxidase function
- Specific genetic markers associated with X-linked CGD (when applicable)
- Carrier status for family members
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with:
- Recurrent bacterial and fungal infections from childhood
- Persistent pneumonia, skin abscesses, or lymph node infections
- Unexplained granuloma formation in various organs
- Family history of chronic granulomatous disease
- Abnormal dihydrorhodamine (DHR) flow cytometry results
- Suspected immunodeficiency disorders with autosomal recessive inheritance
- Children with failure to thrive and recurrent infections
Significant Benefits of CYBA Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out CYBA-related CGD with high precision
- Personalized Treatment: Enables targeted therapies and prophylactic antibiotics
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates prompt management before serious complications develop
- Carrier Detection: Identifies asymptomatic carriers within families
- Improved Prognosis: Enhances long-term outcomes through appropriate medical care
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates identified CYBA gene mutations confirming chronic granulomatous disease diagnosis
- Negative Result: Suggests absence of detectable CYBA mutations, though other genetic causes should be considered
- Carrier Status: Identifies individuals with one mutated CYBA gene copy who are typically asymptomatic
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
All results are accompanied by detailed explanations and recommendations for follow-up care with your healthcare provider.
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 Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and healthcare professionals ensures you receive comprehensive support throughout the testing process.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our CYBA Gene Granulomatous Disease NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With advanced next-generation sequencing technology and expert genetic analysis, we deliver accurate results you can trust.
Ready to schedule your test? Contact us today at +1(267) 388-9828 or book your appointment online. Our genetic counseling team is available to answer your questions and guide you through the testing process.
