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NCF4 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 NGS Genetic Test

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NCF4 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 NGS Genetic Test

Short Name: NCF4 Gene Granulomatous Disease NGS Test

Also known as: Cytochrome b-positive granulomatous disease type 3, Autosomal recessive chronic granulomatous disease type 3

NCF4 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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 Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 3, 2026

Overview

The purpose of this test is to diagnose chronic granulomatous disease type 3 by identifying mutations in the NCF4 gene using next-generation sequencing, enabling targeted treatment and genetic counseling.

Test Code
5587
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history of patient and genetic counseling session to draw a pedigree chart of family members affected with granulomatous disease.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collection via venipuncture.

Step 3

Report Delivery

Sample sent to laboratory for DNA extraction and NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment.
2
During the Test:DNA extraction and next-generation sequencing of the NCF4 gene.
3
After the Test:Report generation, interpretation, and genetic counseling session.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose chronic granulomatous disease type 3 by identifying mutations in the NCF4 gene using next-generation sequencing, enabling targeted treatment and genetic counseling.

How to Prepare

  • Provide clinical history and family pedigree
  • Ensure sample is collected in appropriate container
  • Label sample correctly with patient details

Doctor's Notes

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

"Genetic testing for NCF4 mutations is essential for accurate diagnosis and management of chronic granulomatous disease type 3."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 24 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Improperly labeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the NCF4 gene, which are associated with chronic granulomatous disease type 3.
Positive: Pathogenic variant detected, confirming diagnosis of NCF4-related granulomatous disease.
Negative: No pathogenic variants detected, but clinical correlation is needed if symptoms persist.
Variant of uncertain significance: Further testing or family studies may be required for clarification.
⚠️ When to Consult a Doctor:

If symptoms of recurrent infections, granulomas, or family history suggest granulomatous disease, consult a healthcare professional for evaluation and possible genetic testing.

Limitations

  • ⚠Detects only known mutations in NCF4 gene
  • ⚠May not identify all genetic causes of granulomatous disease

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential for genetic discrimination concerns

Interfering Factors

  • ●Sample quality
  • ●DNA degradation

Compare With Similar Tests

TestNCF4 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 NGS Genetic Test
ComparisonNCF4 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 NGS Genetic Test

Frequently Asked Questions

What is NCF4 gene granulomatous disease?
It is a rare autosomal recessive immune disorder caused by mutations in the NCF4 gene, leading to chronic granulomatous disease type 3 with recurrent infections and granuloma formation.
How is the NGS genetic test performed?
The test involves next-generation sequencing to analyze the NCF4 gene for mutations using a blood or DNA sample.
What are the symptoms of this disease?
Symptoms include fever, coughing, shortness of breath, persistent infections, and skin rashes due to impaired immune function.
Who should consider this genetic test?
Individuals with symptoms of granulomatous disease, family history of the condition, or recurrent unexplained infections should consider testing.
What is the cost of the test in India?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result confirms the presence of pathogenic NCF4 gene mutations, diagnosing chronic granulomatous disease type 3.
Can this disease be treated?
While there is no cure, treatments like antibiotics, antifungals, and interferon-gamma can manage symptoms and prevent complications.
Is genetic counseling provided with the test?
Yes, genetic counseling is included to discuss results, inheritance patterns, and family planning.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising, and potential psychological impact from results.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting known mutations in the NCF4 gene, but it may not identify all genetic variants.
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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For Hospitals & Clinics

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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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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