BTK Gene Agammaglobulinemia and isolated hormone deficiency NGS Genetic Test
Short Name: BTK Gene NGS Genetic Test
Also known as: X-linked agammaglobulinemia, Bruton's disease
BTK Gene Agammaglobulinemia and isolated hormone deficiency 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 SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
To diagnose BTK gene mutations causing agammaglobulinemia and isolated hormone deficiency, enabling early treatment and management.
- Test Code
- 5564
- 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
Clinical history review and genetic counseling session required to draw a pedigree chart.
Method: Venipuncture or FTA Card
Laboratory Analysis
Blood sample collected via venipuncture or using an FTA card with one drop of blood.
Report Delivery
Sample is transported to the laboratory under ambient room temperature for analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose BTK gene mutations causing agammaglobulinemia and isolated hormone deficiency, enabling early treatment and management.
How to Prepare
- No fasting required
- Use sterile collection equipment
- Ensure proper labeling of samples
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"This test is crucial for early diagnosis and management of genetic immune and endocrine disorders, enabling personalized treatment plans."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
Positive
Pathogenic mutation detected, confirming diagnosis of BTK-related disorder.
Negative
No mutation detected; consider other diagnostic tests if symptoms persist.
Consult a healthcare provider if symptoms like recurrent infections or hormonal imbalances occur, or for family planning advice.
Limitations
- ⚠May not detect all possible mutations
- ⚠Requires genetic counseling for interpretation
Risks & Considerations
- ●Minimal risk from blood draw (e.g., bruising)
- ●Potential psychological impact of genetic results
Interfering Factors
- ●Sample degradation
- ●Contamination during collection
Compare With Similar Tests
| Test | BTK Gene Agammaglobulinemia and isolated hormone deficiency NGS Genetic Test | Immunoglobulin Level Test | Thyroid Function Test |
|---|---|---|---|
| Comparison | BTK Gene Agammaglobulinemia and isolated hormone deficiency NGS Genetic Test |
Frequently Asked Questions
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