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DNA Labs India

CYBA Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative NGS Genetic Test

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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.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

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
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree chart.

Method: Venipuncture or saliva collection

Step 2

Laboratory Analysis

Blood draw or saliva collection performed by trained phlebotomist.

Step 3

Report Delivery

Apply pressure to puncture site. Store sample as per instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling session.
2
During the Test:Sample collection via blood draw or saliva.
3
After the Test:Wait for results and follow up with healthcare provider.

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 — 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 TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or saliva collection

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Improperly labeled samples

Understanding Your Results

Results indicate presence or absence of pathogenic variants in the CYBA gene. Consult a geneticist for detailed interpretation.
📊

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

⚠️ When to Consult a Doctor:

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?
It is a rare genetic disorder caused by mutations in the CYBA gene, leading to chronic granulomatous disease with immune system dysfunction.
What are the common symptoms?
Symptoms include recurrent infections, fever, swollen glands, enlarged liver or spleen, chronic diarrhea, and delayed wound healing.
How is the disease diagnosed?
Diagnosis involves blood tests, imaging, biopsies, and genetic testing like NGS to identify CYBA gene mutations.
What is the cost of the NGS genetic test?
The test costs INR 20,000 at DNA Labs India, with home collection available.
How is the test performed?
A blood or saliva sample is collected and analyzed using next-generation sequencing technology.
What is the turnaround time for results?
Results are typically available in 3 to 4 weeks.
Is home sample collection available?
Yes, free home collection is offered for online bookings across India.
What are the risks of the test?
Risks are minimal, including slight discomfort from blood draw and potential psychological impact of results.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting mutations, but genetic counseling is recommended for interpretation.
Can the test detect all mutations?
It may not detect all variants, and results should be correlated with clinical findings.
What should I do if the test is positive?
Consult a healthcare provider for management options and genetic counseling for family planning.
Is genetic counseling recommended?
Yes, genetic counseling is advised before and after testing to understand implications and inheritance patterns.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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Your medical data is protected under Indian law.

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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