CYBB Gene Granulomatous Disease Chronic X-Linked NGS Genetic DNA Test
Comprehensive Genetic Testing for X-Linked Chronic Granulomatous Disease
The CYBB Gene Granulomatous Disease Chronic X-Linked NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited immunodeficiency disorders. This advanced test specifically targets mutations in the CYBB gene, which encodes the gp91-phox subunit of the NADPH oxidase complex essential for proper immune function. Chronic granulomatous disease (CGD) is a rare primary immunodeficiency that affects approximately 1 in 200,000 to 250,000 individuals worldwide, with the X-linked form accounting for approximately 70% of all cases.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology provides comprehensive analysis of the CYBB gene located on the X chromosome. The test identifies:
- Point mutations, deletions, and insertions in the CYBB gene
- Missense, nonsense, and frameshift mutations affecting gp91-phox production
- Splice site variants that disrupt proper protein synthesis
- Large genomic rearrangements and copy number variations
- Carrier status in female relatives of affected individuals
The CYBB gene mutations disrupt the production of reactive oxygen species in phagocytes, compromising the immune system’s ability to eliminate intracellular pathogens and leading to the characteristic granuloma formation seen in CGD patients.
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with the following symptoms or clinical scenarios:
- Recurrent bacterial and fungal infections, particularly catalase-positive organisms
- Persistent lymphadenopathy, hepatosplenomegaly, or abscess formation
- Granulomatous lesions in various organs including lungs, liver, and gastrointestinal tract
- Family history of X-linked chronic granulomatous disease
- Unexplained inflammatory conditions in male infants or children
- Abnormal dihydrorhodamine (DHR) flow cytometry results
- Female relatives of affected males seeking carrier status determination
- Couples with family history planning pregnancy
Clinical Benefits of CYBB Genetic Testing
Early and accurate genetic diagnosis through our CYBB NGS test provides numerous clinical advantages:
- Precise Diagnosis: Confirms X-linked CGD with molecular certainty, distinguishing it from autosomal recessive forms
- Proactive Management: Enables early intervention with prophylactic antibiotics and antifungal medications
- Family Planning: Provides crucial information for genetic counseling and reproductive decision-making
- Treatment Guidance: Informs decisions regarding hematopoietic stem cell transplantation
- Carrier Identification: Identifies female carriers who may pass the mutation to their offspring
- Prenatal Diagnosis: Allows for early detection in at-risk pregnancies
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your CYBB gene analysis:
- Positive Result: Identification of a pathogenic mutation confirms X-linked CGD diagnosis and requires immediate consultation with an immunology specialist
- Negative Result: No CYBB mutations detected suggests alternative diagnoses should be considered
- Variant of Uncertain Significance: Rare genetic changes with unclear clinical impact require further evaluation
- Carrier Status: Female carriers have a 50% chance of passing the mutation to male offspring
All positive results include genetic counseling to discuss implications, management strategies, and family testing recommendations.
Test Pricing and Sample Requirements
| Test Component | Details |
|---|---|
| Test Name | CYBB Gene Granulomatous Disease Chronic X-Linked 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 |
Pre-Test Requirements and Genetic Counseling
Before testing, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree
- Discussion of test implications, benefits, and limitations
- Informed consent process explaining potential outcomes
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services for patients throughout the country.
Take Control of Your Genetic Health Today
Don’t let uncertainty about inherited immune disorders affect your quality of life. Our CYBB Gene Granulomatous Disease Chronic X-Linked NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. Early detection can significantly improve outcomes and guide appropriate treatment strategies.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic test consultation. Our experienced genetic counselors are available to answer your questions and help you understand the testing process. Take the first step toward clarity and proactive health management today.
