CYBA Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative NGS Genetic Test
Short Name: CYBA Gene Granulomatous Disease NGS Test
Also known as: Autosomal Recessive Chronic Granulomatous Disease, CGD Type 4, Cytochrome b-negative CGD
CYBA Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in the CYBA gene to diagnose Chronic Granulomatous Disease (CGD), specifically the autosomal recessive, cytochrome b-negative variant. It aids in confirming the genetic cause, differentiating from other immune disorders, and guiding personalized treatment strategies.
- Test Code
- 2685
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- NGS (Next-Generation Sequencing)
Sample Collection
No specific preparation required. Provide clinical history and family pedigree information during genetic counseling.
Method: Venipuncture for blood
Laboratory Analysis
Blood sample collected via venipuncture by a trained phlebotomist. For FTA card, a drop of blood is applied.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store samples as per instructions for stability.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the CYBA gene to diagnose Chronic Granulomatous Disease (CGD), specifically the autosomal recessive, cytochrome b-negative variant. It aids in confirming the genetic cause, differentiating from other immune disorders, and guiding personalized treatment strategies.
How to Prepare
- Ensure proper identification and labeling of samples
- Use sterile collection tubes or FTA cards
- Transport samples at ambient temperature unless specified
- Follow laboratory guidelines for sample handling
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for CYBA mutations can guide treatment and family planning, especially for autosomal recessive conditions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
- Samples not meeting stability requirements
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of CYBA Gene Granulomatous Disease. Genetic counseling and treatment planning recommended.
No pathogenic variant detected
CYBA gene mutations not identified. Consider other genetic or non-genetic causes based on clinical presentation.
Variant of uncertain significance (VUS)
Further evaluation and family studies may be needed. Consult a geneticist for guidance.
Consult a doctor if you experience recurrent infections, unexplained inflammation, or have a family history of CGD. After testing, discuss results with a geneticist or immunologist for management.
Limitations
- ⚠May not detect all possible mutations or variants of uncertain significance
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
- ⚠Does not rule out other genetic causes of similar symptoms
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●No significant risks associated with genetic testing itself
Interfering Factors
- ●Sample contamination
- ●Insufficient DNA quantity or quality
- ●Hemolyzed or degraded blood samples
- ●Recent blood transfusions
Frequently Asked Questions
What is CYBA Gene Granulomatous Disease?
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Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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