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IL2RG Gene Combined immunodeficiency, X-linked, moderate NGS Genetic Test

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IL2RG Gene Combined immunodeficiency, X-linked, moderate NGS Genetic Test

Short Name: IL2RG Gene CID NGS Test

Also known as: X-linked Combined Immunodeficiency, IL2RG-related Immunodeficiency, X-linked Moderate CID

IL2RG Gene Combined immunodeficiency, X-linked, moderate 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

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose X-linked combined immunodeficiency caused by IL2RG gene mutations, enabling early treatment and genetic counseling for affected individuals and families.

Test Code
4866
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with IL2RG gene mutations.

Method: Venipuncture or FTA Card application

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop of blood on an FTA card, following standard aseptic techniques.

Step 3

Report Delivery

Sample labeled and transported to the laboratory under ambient room temperature conditions for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Blood sample is processed and analyzed using NGS technology to sequence the IL2RG gene.
3
After the Test:Results are reviewed by a geneticist, and a report is generated with recommendations for follow-up.

About This Test

Who Should Get This Test

To diagnose X-linked combined immunodeficiency caused by IL2RG gene mutations, enabling early treatment and genetic counseling for affected individuals and families.

How to Prepare

  • Provide detailed clinical history
  • Attend genetic counseling session
  • Ensure sample is collected in appropriate container
  • Avoid hemolysis during blood draw

Doctor's Notes

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

"Genetic testing for IL2RG mutations is crucial for early diagnosis and management of X-linked combined immunodeficiency, especially in families with a history of recurrent infections or immune disorders."

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
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or FTA Card application

Sample Stability

Blood: Stable for 48 hours at room temperature
FTA Card: Stable for extended periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect labeling or container

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the IL2RG gene. A positive result confirms a diagnosis of X-linked combined immunodeficiency, while a negative result suggests no detectable mutations, but does not rule out other genetic causes.
Consult with a geneticist for result interpretation
Consider family testing for carrier status
Integrate results with clinical symptoms for diagnosis
Use for genetic counseling and family planning
⚠️ When to Consult a Doctor:

If test results are positive or if symptoms persist despite negative results, consult an immunologist or geneticist for further evaluation and management.

Limitations

  • ⚠May not detect all types of IL2RG mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a standalone diagnostic tool; clinical correlation is needed

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Improper sample storage or handling

Compare With Similar Tests

TestIL2RG Gene Combined immunodeficiency, X-linked, moderate NGS Genetic TestSCID Genetic PanelImmunoglobulin Levels TestLymphocyte Subset Analysis
ComparisonIL2RG Gene Combined immunodeficiency, X-linked, moderate NGS Genetic Test

Frequently Asked Questions

What is IL2RG Gene Combined Immunodeficiency?
It is a rare X-linked disorder caused by mutations in the IL2RG gene, leading to impaired immune function and recurrent infections.
What are the common symptoms?
Symptoms include recurrent respiratory, ear, and skin infections, chronic diarrhea, failure to thrive, and developmental delays in infants.
How is the test performed?
The test uses next-generation sequencing (NGS) to analyze DNA from a blood sample for mutations in the IL2RG gene.
What is the cost of the test in India?
The test costs INR 20000 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 indicates a pathogenic variant in the IL2RG gene, confirming a diagnosis of X-linked combined immunodeficiency.
Can females be carriers of this disorder?
Yes, females can be carriers due to X-linked inheritance, but they are usually asymptomatic.
Is genetic counseling required before testing?
Yes, genetic counseling is recommended to understand the implications and draw a family pedigree chart.
What are the treatment options after diagnosis?
Treatment may include antibiotics, immunoglobulin therapy, or hematopoietic stem cell transplantation, guided by a specialist.
How accurate is the NGS test?
NGS technology is highly accurate for detecting genetic mutations, but clinical correlation is essential for diagnosis.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, such as bruising or infection, and potential psychological impact of results.
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.

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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