Lysosomal Storage Disorders Enzyme Panel NGS Genetic Test
Short Name: LSD Enzyme Panel NGS Test
Also known as: Lysosomal Enzyme Panel, LSD Genetic Test, Metabolic Disorder Enzyme Panel
Lysosomal Storage Disorders Enzyme Panel 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 3-4 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To diagnose Lysosomal Storage Disorders by identifying genetic mutations associated with enzyme deficiencies through advanced NGS analysis, aiding in early intervention and management.
- Test Code
- 1848
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
No special preparation required. Provide clinical history and undergo genetic counseling if advised.
Method: Blood sample or DNA extraction
Laboratory Analysis
Blood sample collected via venipuncture by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Sample is processed for DNA extraction.
Timeline: 3-4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Lysosomal Storage Disorders by identifying genetic mutations associated with enzyme deficiencies through advanced NGS analysis, aiding in early intervention and management.
How to Prepare
- Ensure proper labeling of sample tubes
- Transport blood samples at ambient temperature
- Use FTA cards for one-drop blood collection if specified
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic testing for Lysosomal Storage Disorders can lead to timely interventions and improved patient outcomes through personalized care plans."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Contaminated or improperly stored samples
- Missing patient information or consent
Understanding Your Results
Positive for pathogenic mutation
Confirms genetic diagnosis of LSD; refer to specialist for treatment planning.
Negative for known mutations
No mutation detected in analyzed genes; clinical correlation advised for further evaluation.
Variant of uncertain significance
Requires additional testing or family studies; consult genetic counselor.
If symptoms persist, worsen, or if there is a family history of LSDs, consult a healthcare provider or genetic specialist immediately.
Limitations
- ⚠May not detect all possible mutations or non-genetic causes
- ⚠Results require genetic counseling for accurate interpretation
Risks & Considerations
- ●Minor bruising or discomfort at blood draw site
- ●Rare risk of infection from venipuncture
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Incorrect sample handling or storage
Compare With Similar Tests
| Test | Lysosomal Storage Disorders Enzyme Panel NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | Lysosomal Storage Disorders Enzyme Panel NGS Genetic Test | Measures enzyme activity directly but may not identify specific genetic mutations. | Broader panel covering multiple metabolic conditions, less specific for LSDs. | Comprehensive genetic test but more costly and time-consuming. |
Frequently Asked Questions
What is the Lysosomal Storage Disorders Enzyme Panel NGS Genetic Test?
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