RAG2 Gene Combined cellular and humoral immune defects with granulomas NGS Genetic Test
Short Name: RAG2 Gene NGS Test
Also known as: RAG2 Gene Mutation Test, RAG2 Sequencing Test, Immunodeficiency Genetic Test
RAG2 Gene Combined cellular and humoral immune defects with granulomas 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 from sample receipt. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To accurately diagnose mutations in the RAG2 gene that cause combined cellular and humoral immune defects with granulomas, facilitating early intervention, genetic counseling, and management of associated symptoms.
- Test Code
- 2386
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation required. Provide clinical history and family pedigree during genetic counseling.
Method: Venipuncture or finger-prick for FTA card
Laboratory Analysis
Blood sample collected via venipuncture or FTA card finger-prick. Minimal discomfort expected.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store sample at ambient room temperature for transport.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
To accurately diagnose mutations in the RAG2 gene that cause combined cellular and humoral immune defects with granulomas, facilitating early intervention, genetic counseling, and management of associated symptoms.
How to Prepare
- Ensure patient is comfortable and relaxed
- Use sterile equipment for blood collection
- Label sample with patient details correctly
- Transport sample to lab within 24 hours at room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for RAG2 mutations is crucial for diagnosing combined immune defects in patients with recurrent infections and granulomas, especially in family planning contexts."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Incorrect labeling or insufficient sample volume
- Sample contaminated or improperly stored
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of RAG2-related immune defect. Requires clinical correlation and genetic counseling.
Negative for pathogenic variant
No RAG2 mutations detected. Consider other genetic or immunological causes.
Variant of uncertain significance
Further testing and family studies may be needed for clarification.
Consult a genetic specialist or immunologist if you experience recurrent infections, autoimmune symptoms, granulomas, or have a family history of immune disorders. Genetic counseling is recommended post-test to understand implications.
Limitations
- ⚠May not detect all possible genetic variants, such as large deletions or deep intronic mutations
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical symptoms and family history
Risks & Considerations
- ●Minor bruising or soreness at the blood draw site
- ●Very low risk of infection
- ●Psychological impact of genetic results, requiring counseling
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Contamination during sample collection
- ●Recent blood transfusions may affect DNA analysis
Compare With Similar Tests
| Test | RAG2 Gene Combined cellular and humoral immune defects with granulomas NGS Genetic Test | RAG1 Gene Test | IL2RG Gene Test | Common Variable Immunodeficiency Panel |
|---|---|---|---|---|
| Comparison | RAG2 Gene Combined cellular and humoral immune defects with granulomas NGS Genetic Test |
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