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RAG2 Gene Combined immunodeficiency, B cell-negative, T cell-negative, NK cell positive NGS Genetic Test

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RAG2 Gene Combined immunodeficiency, B cell-negative, T cell-negative, NK cell positive NGS Genetic Test

Short Name: RAG2 CID NGS Test

Also known as: RAG2 Combined Immunodeficiency, B cell-negative, T cell-negative, NK cell positive immunodeficiency, RAG2 deficiency

RAG2 Gene Combined immunodeficiency, B cell-negative, T cell-negative, NK cell positive 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

🩺 Medically Reviewed By

Overview

The purpose of this test is to diagnose RAG2 gene mutations that cause combined immunodeficiency, enabling accurate identification of the condition for appropriate medical management and family planning.

Test Code
4863
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are required before testing.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Standard blood draw procedure using venipuncture or finger-prick for FTA card.

Step 3

Report Delivery

Sample is processed and shipped to the laboratory for analysis under controlled conditions.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling.
2
During the Test:Blood sample collection via venipuncture or finger-prick.
3
After the Test:Sample analysis in the laboratory; report delivered in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose RAG2 gene mutations that cause combined immunodeficiency, enabling accurate identification of the condition for appropriate medical management and family planning.

How to Prepare

  • Ensure proper labeling of samples
  • Use sterile collection equipment
  • Follow aseptic techniques

Doctor's Notes

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

"Early genetic testing for RAG2 mutations can guide treatment 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
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the RAG2 gene associated with combined immunodeficiency.
📊

Positive for pathogenic variants

Confirms diagnosis of RAG2 gene combined immunodeficiency; further clinical management recommended.

📊

Negative for pathogenic variants

No mutations detected in the RAG2 gene; consider other genetic or immunological tests if symptoms persist.

📊

Variant of uncertain significance

Genetic counseling and additional testing may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms of immunodeficiency, such as recurrent infections or failure to thrive, are present, or for genetic counseling after test results.

Limitations

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

Risks & Considerations

  • Minimal risks from blood draw, such as bruising or infection
  • Rare allergic reactions to antiseptics

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Improper sample storage

Compare With Similar Tests

TestRAG2 Gene Combined immunodeficiency, B cell-negative, T cell-negative, NK cell positive NGS Genetic TestWhole Exome SequencingSanger SequencingImmunoglobulin Level TestLymphocyte Subset Analysis
ComparisonRAG2 Gene Combined immunodeficiency, B cell-negative, T cell-negative, NK cell positive NGS Genetic TestBroader genetic analysis but higher cost; NGS for RAG2 is targeted and cost-effective.Traditional method for single-gene analysis; NGS offers higher throughput and sensitivity.Measures antibody levels; genetic test identifies underlying genetic cause.Assesses immune cell counts; genetic test confirms genetic etiology.

Frequently Asked Questions

What is RAG2 Gene Combined Immunodeficiency?
It is a rare genetic disorder caused by mutations in the RAG2 gene, leading to impaired development of B cells, T cells, and NK cells, resulting in a weakened immune system.
What are the symptoms of this condition?
Symptoms include recurrent infections, chronic diarrhea, failure to thrive in infants, delayed growth, enlarged lymph nodes, and autoimmune disorders.
How is RAG2 Gene CID diagnosed?
Diagnosis involves clinical evaluation, laboratory tests, and genetic testing such as NGS to detect mutations in the RAG2 gene.
What is the cost of the NGS genetic test in India?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get the results?
Results are typically available in 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India.
What does a positive test result mean?
A positive result confirms the presence of pathogenic variants in the RAG2 gene, indicating RAG2 Gene Combined Immunodeficiency.
Can this test be used for family planning?
Yes, genetic testing can help identify carriers and guide family planning decisions through genetic counseling.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising or infection, which are rare.
What should I do after receiving the test results?
Consult a healthcare professional or genetic counselor for interpretation and management based on the 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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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 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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