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IL21R Gene Immunodeficiency, primary, autosomal recessive, IL21R-related NGS Genetic Test

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IL21R Gene Immunodeficiency, primary, autosomal recessive, IL21R-related NGS Genetic Test

Short Name: IL21R Gene Test

Also known as: IL21R deficiency, Primary immunodeficiency due to IL21R mutation

IL21R Gene Immunodeficiency, primary, autosomal recessive, IL21R-related 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 Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose IL21R Gene Immunodeficiency by identifying mutations in the IL21R gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
5020
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

Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card.

Step 3

Report Delivery

Sample sent to lab for NGS analysis; results available in 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment required.
2
During the Test:Blood sample collection; minimal discomfort.
3
After the Test:Monitor for any post-collection symptoms; await results.

About This Test

Who Should Get This Test

To diagnose IL21R Gene Immunodeficiency by identifying mutations in the IL21R gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Early genetic testing for IL21R mutations can guide management and family planning for immunodeficiency disorders."

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
Sample Rejection Criteria:
  • Hemolyzed or insufficient sample
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the IL21R gene.
📊

Positive for pathogenic variant

Confirms diagnosis of IL21R Gene Immunodeficiency; genetic counseling recommended.

📊

Negative for pathogenic variant

No mutations detected; clinical correlation advised if symptoms persist.

📊

Variant of uncertain significance

Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If symptoms of recurrent infections or immunodeficiency persist, or if test results are positive.

Limitations

  • Test may not detect all genetic variants
  • Results require clinical correlation

Risks & Considerations

  • Minor bruising at blood draw site
  • Rare infection risk

Frequently Asked Questions

What is IL21R Gene Immunodeficiency?
It is a rare autosomal recessive genetic disorder caused by mutations in the IL21R gene, leading to impaired immune function and recurrent infections.
What are the common symptoms?
Symptoms include recurrent infections (e.g., pneumonia, sinusitis), frequent diarrhea, delayed growth, anemia, and enlarged liver or spleen.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the IL21R gene for mutations from a blood or DNA sample.
What is the cost of the test in India?
The test costs INR 20,000, with free home sample collection available across India.
Is home collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample is required?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What are the treatment options if diagnosed?
Treatment may include antibiotics, immunoglobulin replacement therapy, or bone marrow transplantation to manage symptoms.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. Government schemes like PMJAY may not cover it.
How accurate is the NGS genetic test?
NGS technology provides high accuracy for detecting mutations, but results should be correlated with clinical findings.
What should I do if I test positive?
Consult a genetic counselor or immunologist for management options and family planning advice.
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 Data Privacy

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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