RAG1 Gene Severe combined immunodeficiency, B cell-negative NGS Genetic Test
Short Name: RAG1 Gene SCID NGS Test
Also known as: RAG1 Deficiency, SCID due to RAG1 mutation, B cell-negative SCID
RAG1 Gene Severe combined immunodeficiency, B cell-negative 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the RAG1 Gene SCID NGS Genetic Test is to identify mutations in the RAG1 gene that cause Severe Combined Immunodeficiency (SCID), aiding in accurate diagnosis, prognosis assessment, treatment planning, and genetic counseling for affected individuals and their families.
- Test Code
- 2474
- 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
Sample Collection
Provide detailed clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with SCID or related disorders.
Method: Venipuncture or finger prick
Laboratory Analysis
Standard blood draw procedure using venipuncture or finger prick for FTA card collection, performed by a trained phlebotomist.
Report Delivery
Sample is processed for DNA extraction and analyzed using NGS technology. Results are reviewed by geneticists and reported within 3 to 4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the RAG1 Gene SCID NGS Genetic Test is to identify mutations in the RAG1 gene that cause Severe Combined Immunodeficiency (SCID), aiding in accurate diagnosis, prognosis assessment, treatment planning, and genetic counseling for affected individuals and their families.
How to Prepare
- Provide complete clinical history and family pedigree
- Ensure genetic counseling session is completed prior to testing
- Use appropriate sample container (EDTA tube or FTA card)
- Label samples correctly with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis of RAG1 gene SCID through NGS testing is crucial for timely intervention, management, and genetic counseling to improve patient outcomes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of RAG1 gene SCID. Recommend immediate clinical management and genetic counseling.
Negative for pathogenic variant
No mutations detected in RAG1 gene. Consider other genetic causes of SCID if symptoms persist.
Variant of uncertain significance (VUS)
Further testing and clinical correlation needed. Genetic counseling recommended for family planning.
Consult a doctor if the child shows symptoms of recurrent infections, failure to thrive, or if there is a family history of SCID. Early diagnosis and intervention are critical for management.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or intronic variants
- ⚠Requires genetic counseling for proper interpretation
- ⚠Results should be correlated with clinical findings and family history
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection at the puncture site
- ●No significant risks associated with NGS testing itself
Interfering Factors
- ●Poor sample quality or hemolysis
- ●Contamination during sample collection or processing
- ●Insufficient DNA quantity for NGS analysis
Compare With Similar Tests
| Test | RAG1 Gene Severe combined immunodeficiency, B cell-negative NGS Genetic Test | RAG2 Gene SCID NGS Test | IL2RG Gene SCID Test | Comprehensive SCID Gene Panel | Immunoglobulin Levels Test |
|---|---|---|---|---|---|
| Comparison | RAG1 Gene Severe combined immunodeficiency, B cell-negative NGS Genetic Test | Similar NGS-based test for RAG2 gene mutations causing SCID. | Targets X-linked SCID mutations, another common cause of SCID. | Tests multiple genes associated with SCID for broader diagnosis. | Measures antibody levels; often used alongside genetic tests for SCID diagnosis. |
Frequently Asked Questions
What is RAG1 Gene SCID?
What are the symptoms of RAG1 Gene SCID?
How is RAG1 Gene SCID diagnosed?
What is the NGS Genetic Test for RAG1 Gene SCID?
What is the cost of the RAG1 Gene SCID NGS Test in India?
Is home sample collection available for this test?
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What sample type is required for the test?
Is fasting required before the test?
Who should consider getting this test?
What does a positive test result mean?
Is genetic counseling recommended before testing?
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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.
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✓ 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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