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IL2RA Gene Interleukin 2 receptor deficiency NGS Genetic Test

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IL2RA Gene Interleukin 2 receptor deficiency NGS Genetic Test

Short Name: IL2RA Gene NGS Test

Also known as: Interleukin-2 Receptor Deficiency, IL2RA Deficiency, Genetic Immunodeficiency

IL2RA Gene Interleukin 2 receptor deficiency 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)All Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To detect mutations in the IL2RA gene for accurate diagnosis of Interleukin 2 Receptor Deficiency, enabling early intervention and management of immune-related symptoms.

Test Code
5032
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

Obtain clinical history and provide genetic counseling. Ensure informed consent.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure using aseptic technique.

Step 3

Report Delivery

Label sample properly and transport to laboratory under ambient conditions.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw a pedigree chart.
2
During the Test:Blood sample collection via venipuncture.
3
After the Test:Wait for report delivery in 3-4 weeks and follow up with physician for management.

About This Test

Who Should Get This Test

To detect mutations in the IL2RA gene for accurate diagnosis of Interleukin 2 Receptor Deficiency, enabling early intervention and management of immune-related symptoms.

How to Prepare

  • Avoid hemolysis during blood draw
  • Use sterile equipment
  • Label samples with patient details

Doctor's Notes

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

"Early genetic diagnosis of IL2RA deficiency is essential for managing recurrent infections and autoimmune complications, allowing for targeted treatment and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 ml blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood: 24 hours at room temperature
Extracted DNA: Stable for up to 1 week at 4°C
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or contaminated sample
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the IL2RA gene, aiding in diagnosis.
📊

Normal

No pathogenic variants detected; IL2RA deficiency unlikely.

📊

Pathogenic variant detected

Diagnosis of IL2RA Gene Interleukin 2 Receptor Deficiency confirmed.

📊

Variant of uncertain significance

Further testing or family studies recommended.

⚠️ When to Consult a Doctor:

If experiencing recurrent infections, autoimmune symptoms, or have a family history of genetic disorders, consult a geneticist or immunologist.

Limitations

  • May not detect all genetic variants
  • Requires genetic counseling for interpretation
  • Results may need confirmation with additional tests

Risks & Considerations

  • Minimal risk from blood draw (e.g., bruising)
  • Potential genetic privacy concerns

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Hemolyzed blood sample

Frequently Asked Questions

What is IL2RA Gene Interleukin 2 Receptor Deficiency?
It is a rare genetic disorder caused by mutations in the IL2RA gene, leading to immune system dysfunction and recurrent infections.
What are the symptoms of this deficiency?
Symptoms include recurrent respiratory, skin, and gastrointestinal infections, along with autoimmune disorders like type 1 diabetes and thyroiditis.
How is the test performed?
The test uses next-generation sequencing (NGS) to analyze the IL2RA gene from a blood or DNA sample.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India.
What should I do before getting tested?
A genetic counseling session is recommended to discuss the test and draw a family pedigree chart.
How accurate is the test?
The NGS technology provides highly accurate and reliable results for detecting IL2RA gene mutations.
Can this test diagnose autoimmune disorders?
It helps diagnose IL2RA deficiency, which may be associated with autoimmune conditions, but additional tests may be needed.
What if the test shows a variant of uncertain significance?
Further testing or family studies may be recommended to clarify the variant's clinical significance.
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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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.

LIMS Integration

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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