CYBA Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative NGS Genetic Test
Short Name: CYBA Gene CGD NGS Test
Also known as: Chronic Granulomatous Disease, autosomal recessive, cytochrome b-negative, CYBA-related 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 Technology 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 3, 2026
Overview
To identify mutations in the CYBA gene for diagnosis of chronic granulomatous disease, guide treatment, and provide genetic counseling.
- Test Code
- 4945
- 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 Technology
Sample Collection
No specific preparation required. Provide clinical history and family pedigree chart.
Method: Venipuncture or saliva collection
Laboratory Analysis
Blood draw or saliva collection performed by trained phlebotomist.
Report Delivery
Apply pressure to puncture site. Store sample as per instructions.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the CYBA gene for diagnosis of chronic granulomatous disease, guide treatment, and provide genetic counseling.
How to Prepare
- Use sterile equipment
- Label samples correctly
- Transport at ambient temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This test is crucial for diagnosing chronic granulomatous disease caused by CYBA gene mutations, enabling early intervention and genetic counseling."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient volume
- Improperly labeled samples
Understanding Your Results
No pathogenic variants detected
Normal result, but clinical correlation needed
Pathogenic variant detected
Confirms diagnosis of CYBA-related CGD
Variant of uncertain significance
Further testing or family studies recommended
If symptoms of chronic granulomatous disease are present, or for genetic counseling and family planning.
Limitations
- ⚠May not detect all genetic variants
- ⚠Requires genetic counseling for interpretation
- ⚠Results may have implications for family members
Risks & Considerations
- ●Minimal physical risks from blood draw
- ●Psychological impact of genetic results
- ●Potential for false positives or negatives
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Hemolyzed blood samples
Frequently Asked Questions
What is CYBA gene granulomatous disease?
What are the common symptoms?
How is the disease diagnosed?
What is the cost of the NGS genetic test?
How is the test performed?
What is the turnaround time for results?
Is home sample collection available?
What are the risks of the test?
How accurate is the NGS genetic test?
Can the test detect all mutations?
What should I do if the test is positive?
Is genetic counseling recommended?
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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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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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