CIITA Gene Bare lymphocyte syndrome, type 2, complementation group A NGS Genetic Test
Short Name: CIITA Gene BLS2A NGS Genetic Test
Also known as: Bare Lymphocyte Syndrome Type 2A, BLS2A, CIITA-related immunodeficiency
CIITA Gene Bare lymphocyte syndrome, type 2, complementation group A NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next-Generation Sequencing 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 this test is to diagnose Bare Lymphocyte Syndrome Type 2A (BLS2A) by detecting pathogenic mutations in the CIITA gene using next-generation sequencing (NGS). It helps confirm the genetic basis of immunodeficiency, guide treatment decisions, and facilitate family genetic counseling.
- Test Code
- 4856
- 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, Next-Generation Sequencing
Sample Collection
No special preparation required. Provide clinical history and family pedigree information during genetic counseling.
Method: Venipuncture or DNA extraction
Laboratory Analysis
Blood sample collected via venipuncture or DNA extracted from provided sample. Minimal discomfort expected.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose Bare Lymphocyte Syndrome Type 2A (BLS2A) by detecting pathogenic mutations in the CIITA gene using next-generation sequencing (NGS). It helps confirm the genetic basis of immunodeficiency, guide treatment decisions, and facilitate family genetic counseling.
How to Prepare
- Ensure proper identification and labeling of samples
- Use sterile collection tubes or FTA cards as specified
- Transport samples at ambient temperature unless otherwise instructed
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is essential for diagnosing rare immunodeficiency disorders like BLS2A, enabling early intervention and personalized care plans."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improper labeling or documentation
Understanding Your Results
Consult a doctor if you experience recurrent infections, delayed growth, or other symptoms of immunodeficiency, or if genetic testing results are positive or uncertain.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or intronic variants
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
- ●Potential for uncertain results requiring further testing
Interfering Factors
- ●Sample contamination or degradation
- ●Insufficient DNA quantity or quality
- ●Technical errors in sequencing
Compare With Similar Tests
| Test | CIITA Gene Bare lymphocyte syndrome, type 2, complementation group A NGS Genetic Test | Flow Cytometry for MHC-II Expression | Sanger Sequencing of CIITA Gene |
|---|---|---|---|
| Comparison | CIITA Gene Bare lymphocyte syndrome, type 2, complementation group A NGS Genetic Test |
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