ZAP70 Gene Selective T-cell defect NGS Genetic Test
Short Name: ZAP70 NGS Genetic Test
Also known as: ZAP70 deficiency, Selective T-cell defect, ZAP70-related immunodeficiency
ZAP70 Gene Selective T-cell defect 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 this test is to identify pathogenic variants in the ZAP70 gene to diagnose selective T-cell defects, confirm clinical suspicion of immunodeficiency, guide treatment decisions, and provide information for genetic counseling and family risk assessment.
- Test Code
- 2471
- 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 clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.
Method: Venipuncture or blood drop on FTA card
Laboratory Analysis
Blood sample collected via venipuncture or blood drop on FTA card by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site; store samples as instructed; await report delivery in 3-4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the ZAP70 gene to diagnose selective T-cell defects, confirm clinical suspicion of immunodeficiency, guide treatment decisions, and provide information for genetic counseling and family risk assessment.
How to Prepare
- Fast if required, though not specified for this test
- Bring identification and prescription
- Inform about any medications or conditions
- Ensure sample is properly labeled
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for ZAP70 defects is crucial for diagnosing selective T-cell defects, guiding treatment, and family planning. Consult a specialist for personalized care."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrect labeling
- Contaminated samples
Understanding Your Results
Positive for pathogenic variant
Confirms ZAP70 gene defect; indicates selective T-cell defect; recommend immunology consultation and treatment planning.
Negative for pathogenic variant
No known mutations detected; symptoms may be due to other causes; consider further testing.
Variant of uncertain significance
Genetic variant identified but clinical significance unknown; recommend follow-up testing and genetic counseling.
Consult a doctor if you experience recurrent infections, chronic diarrhea, growth failure, or autoimmune symptoms, especially with a family history of immune disorders. After testing, consult for result interpretation and management.
Limitations
- ⚠May not detect all genetic variants or structural changes
- ⚠Requires genetic counseling for interpretation
- ⚠Results may have variants of uncertain significance
- ⚠Not a substitute for clinical evaluation
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results; counseling recommended
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Hemolyzed blood samples
- ●Incorrect sample storage
Compare With Similar Tests
| Test | ZAP70 Gene Selective T-cell defect NGS Genetic Test | Immunoglobulin Levels Test | T-cell Subset Analysis | Whole Exome Sequencing | Flow Cytometry for Lymphocytes |
|---|---|---|---|---|---|
| Comparison | ZAP70 Gene Selective T-cell defect NGS Genetic Test | Measures antibody levels; ZAP70 test identifies genetic cause of T-cell defect. | Evaluates T-cell populations; ZAP70 test provides genetic diagnosis. | Broader genetic analysis; ZAP70 test is targeted for specific gene. | Functional assessment; ZAP70 test is molecular diagnosis. |
Frequently Asked Questions
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