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DNA Labs India

CYBB Gene Granulomatous disease, chronic, X-linked NGS Genetic Test

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CYBB Gene Granulomatous disease, chronic, X-linked NGS Genetic Test

Short Name: CYBB Gene Granulomatous Disease Test

Also known as: X-linked Chronic Granulomatous Disease, CYBB-related CGD, X-linked CGD

CYBB Gene Granulomatous disease, chronic, X-linked 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 from sample receipt. Free home collection in 300+ cities across India.

Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

This test is designed to identify mutations in the CYBB gene for the early diagnosis and management of CYBB Gene Granulomatous Disease, enabling personalized treatment and genetic counseling.

Test Code
4952
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Clinical history review and genetic counseling session recommended to draw a pedigree chart of affected family members.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture; alternatively, extracted DNA or one drop blood on FTA card can be used.

Step 3

Report Delivery

Sample is transported to the laboratory under ambient room temperature for analysis.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling and informed consent are required. Provide detailed clinical and family history.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Report generation, interpretation by a geneticist, and consultation with the referring physician.

About This Test

Who Should Get This Test

This test is designed to identify mutations in the CYBB gene for the early diagnosis and management of CYBB Gene Granulomatous Disease, enabling personalized treatment and genetic counseling.

How to Prepare

  • Fasting is not required
  • Avoid strenuous physical activity before sample collection
  • Ensure proper labeling of the sample

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This test is crucial for early diagnosis and management of X-linked granulomatous disease, especially in families with a history of recurrent infections or immunodeficiency."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for up to 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Incorrectly labeled or insufficient sample volume
  • Sample not stored at recommended temperature

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the CYBB gene, which are associated with X-linked granulomatous disease.
Normal: No pathogenic variants detected, suggesting low risk for CYBB-related disease.
Abnormal: Pathogenic variant detected, indicating carrier status or affected individual; further clinical correlation and genetic counseling advised.
Variant of Uncertain Significance (VUS): Mutation found but clinical significance unknown; recommend follow-up testing and consultation.
⚠️ When to Consult a Doctor:

If symptoms of granulomatous disease are present, such as recurrent infections or chronic inflammation, or for family planning advice if a pathogenic variant is identified.

Limitations

  • May not detect all types of mutations (e.g., deep intronic variants)
  • Requires genetic counseling for accurate interpretation
  • Results may have implications for family members

Risks & Considerations

  • Minimal risk associated with blood draw (e.g., bruising, infection)
  • Psychological impact of genetic results on patient and family
  • Potential for incidental findings unrelated to the condition

Interfering Factors

  • Hemolyzed or degraded sample
  • Insufficient DNA quantity
  • Contamination during sample processing

Compare With Similar Tests

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ComparisonCYBB Gene Granulomatous disease, chronic, X-linked NGS Genetic Test

Frequently Asked Questions

What is the CYBB Gene Granulomatous Disease NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to identify mutations in the CYBB gene, which causes X-linked chronic granulomatous disease, a rare immunodeficiency disorder.
What is the cost of this test in India?
The cost is INR 20,000, with free home sample collection available across India for online bookings.
What are the symptoms of CYBB Gene Granulomatous Disease?
Symptoms include recurrent infections (e.g., pneumonia, skin infections), chronic inflammation in organs, abnormal lung scarring, blood disorders like anemia, and delayed wound healing.
How is the test performed?
The test involves analyzing a blood or DNA sample using NGS technology to detect mutations in the CYBB gene. No fasting is required.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test accurate?
Yes, NGS is a highly accurate method for identifying genetic mutations, but results should be interpreted by a genetic counselor or healthcare professional.
Who should get this test?
Individuals with symptoms of granulomatous disease, a family history of X-linked CGD, or those seeking genetic counseling for family planning.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to discuss the test implications, draw a family pedigree, and obtain informed consent.
What if the test is positive for a mutation?
A positive result indicates a pathogenic variant in the CYBB gene; consult a healthcare provider for management options, which may include prophylactic antibiotics or other treatments.
Can this test be done at home?
Yes, free home sample collection is available for online bookings in many cities across India.
Is the test covered by insurance?
Coverage varies; it is not typically covered under government schemes like PMJAY or CGHS, but check with private insurance providers for details.
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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