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IRF8 Gene Immunodeficiency type 32A, mycobacteriosis, autosomal dominant NGS Genetic Test

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IRF8 Gene Immunodeficiency type 32A, mycobacteriosis, autosomal dominant NGS Genetic Test

Short Name: IRF8 Immunodeficiency Type 32A NGS Test

IRF8 Gene Immunodeficiency type 32A, mycobacteriosis, autosomal dominant 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.

Next-Generation Sequencing (NGS)🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose mutations in the IRF8 gene that cause immunodeficiency type 32A, leading to susceptibility to mycobacterial infections.

Test Code
5015
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.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Blood sample will be drawn from a vein or collected via FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are required before testing.
2
During the Test:Sample collection procedure involves a simple blood draw or FTA card use.
3
After the Test:Wait for 3-4 weeks for results and follow up with a genetic counselor for interpretation.

About This Test

Who Should Get This Test

To diagnose mutations in the IRF8 gene that cause immunodeficiency type 32A, leading to susceptibility to mycobacterial infections.

How to Prepare

  • Bring identification and prescription.
  • Inform about any medications or health conditions.
  • Follow any specific instructions from the healthcare provider.

Doctor's Notes

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

"Genetic testing for IRF8 mutations is essential for early diagnosis and management of immunodeficiency disorders. Consult with a genetic counselor for family planning advice."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results indicate the presence or absence of mutations in the IRF8 gene associated with immunodeficiency type 32A.
Positive result: Mutation detected, confirm diagnosis and consider genetic counseling for family members.
Negative result: No mutation detected, but clinical correlation is needed if symptoms persist.
⚠️ When to Consult a Doctor:

If you have recurrent infections, especially mycobacterial infections, or a family history of immunodeficiency disorders.

Limitations

  • This test only analyzes the IRF8 gene and may not detect other genetic causes of immunodeficiency.

Risks & Considerations

  • Minor bruising at the blood draw site
  • Rare risk of infection or hematoma

Frequently Asked Questions

What is IRF8 Gene Immunodeficiency Type 32A?
It is a rare genetic disorder caused by mutations in the IRF8 gene, leading to immune system dysfunction and increased susceptibility to mycobacterial infections.
What are the common symptoms of this condition?
Symptoms include recurrent infections, fever, cough, weight loss, night sweats, and fatigue, often with mycobacterial infections like pneumonia or skin infections.
How is IRF8 Gene Immunodeficiency Type 32A diagnosed?
Diagnosis is made through genetic testing using Next-Generation Sequencing (NGS) to detect mutations in the IRF8 gene.
What is the inheritance pattern of this disorder?
It is inherited in an autosomal dominant pattern, meaning an affected individual has a 50% chance of passing the mutated gene to their offspring.
What is the cost of the NGS genetic test in India?
The cost is typically around INR 20,000 at DNA Labs India, but it may vary and could be covered by insurance in some cases.
Is the test covered by insurance?
Coverage depends on the insurance provider and policy; it is advisable to check with your insurer for specific details.
How long does it take to get the test results?
Results are usually available within 3 to 4 weeks after sample collection.
What sample is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What is the role of genetic counseling in this test?
Genetic counseling helps understand the inheritance pattern, interpret results, and assess the risk of passing the mutation to offspring.
Can this test detect other genetic disorders?
No, this test specifically analyzes the IRF8 gene and may not detect mutations in other genes associated with immunodeficiency.
What should I do if I test positive for an IRF8 mutation?
Consult a healthcare provider or genetic counselor for further management, family screening, and potential treatment options.
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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