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NCF2 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 NGS Genetic Test

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NCF2 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 NGS Genetic Test

Short Name: NCF2 Gene CGD Type 2 NGS Test

Also known as: Chronic Granulomatous Disease Type 2, Autosomal Recessive CGD, Cytochrome b-positive CGD

NCF2 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose Chronic Granulomatous Disease type 2 by detecting mutations in the NCF2 gene using NGS technology, enabling early intervention and personalized treatment.

Test Code
2686
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

Provide clinical history and undergo genetic counseling to draw a pedigree chart. No fasting required.

Method: Venipuncture or FTA card spot

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site. Store sample at ambient temperature and transport to the lab promptly.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before sample collection.
2
During the Test:Sample collection involves a simple blood draw or FTA card spot, with minimal discomfort.
3
After the Test:Results are available in 3-4 weeks; follow-up with a genetic counselor is advised.

About This Test

Who Should Get This Test

To diagnose Chronic Granulomatous Disease type 2 by detecting mutations in the NCF2 gene using NGS technology, enabling early intervention and personalized treatment.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection tubes
  • Label samples correctly
  • Avoid hemolysis during blood draw

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"This test is crucial for diagnosing CGD type 2, enabling early intervention and personalized treatment plans to manage infections and improve quality of life."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card spot

Sample Stability

Blood in EDTA: stable for 48 hours at room temperature
FTA card: stable for years if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Incorrect labeling
  • Insufficient sample volume

Understanding Your Results

Results indicate the presence or absence of mutations in the NCF2 gene associated with CGD type 2. Positive results confirm diagnosis, while negative results may require further testing.
📊

Pathogenic mutation detected

Confirms diagnosis of CGD type 2; recommend clinical management and family screening.

📊

No pathogenic mutation detected

CGD type 2 unlikely; consider other genetic or immune disorders.

📊

Variant of uncertain significance

Further evaluation needed; consult genetic counselor.

⚠️ When to Consult a Doctor:

Consult a genetic specialist or immunologist if symptoms persist, for family planning advice, or to discuss treatment options post-diagnosis.

Limitations

  • ⚠May not detect all rare variants
  • ⚠Results require genetic counseling for interpretation
  • ⚠Not suitable for prenatal diagnosis without additional validation

Risks & Considerations

  • ●Minor bruising or pain at the blood draw site
  • ●Very low risk of infection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample storage

Frequently Asked Questions

What is NCF2 Gene Granulomatous Disease Type 2?
It is a rare autosomal recessive genetic disorder caused by mutations in the NCF2 gene, leading to immune dysfunction and recurrent infections.
How is CGD type 2 inherited?
It is inherited in an autosomal recessive pattern, meaning both parents must carry a mutated copy of the NCF2 gene.
What are the common symptoms of CGD type 2?
Symptoms include recurrent skin, lung, and lymph node infections, fever, chronic diarrhea, abdominal pain, and enlarged liver or spleen.
How is CGD type 2 diagnosed?
Diagnosis is confirmed through genetic testing, such as NGS, which analyzes the NCF2 gene for mutations.
What is NGS genetic testing?
Next-Generation Sequencing (NGS) is a high-throughput DNA analysis method that can identify multiple genetic mutations simultaneously.
What is the cost of the NCF2 Gene NGS Test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
Is home sample collection available?
Yes, free home 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 should I do before the test?
Provide clinical history and undergo genetic counseling to draw a family pedigree chart.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw; no significant health risks.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis; consult a genetic counselor for prenatal options.
What treatment options are available after diagnosis?
Treatment may include antibiotics, antifungals, interferon-gamma, or stem cell transplantation, guided by a specialist.
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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