NAGA Gene Schindler disease NGS Genetic Test
Short Name: Schindler Disease NGS Test
Also known as: Alpha-NAGA deficiency, Alpha-N-acetylgalactosaminidase deficiency
NAGA Gene Schindler disease 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 from sample receipt. 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 Schindler disease by identifying pathogenic mutations in the NAGA gene using next-generation sequencing technology, enabling accurate clinical management, genetic counseling, and family risk assessment.
- Test Code
- 2241
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Review patient's clinical history and family pedigree during a genetic counseling session.
Method: Venipuncture or FTA card collection
Laboratory Analysis
Collect blood sample via venipuncture into an EDTA tube or use an FTA card for one-drop blood collection.
Report Delivery
Transport sample to the laboratory under appropriate conditions for DNA extraction and NGS analysis.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Schindler disease by identifying pathogenic mutations in the NAGA gene using next-generation sequencing technology, enabling accurate clinical management, genetic counseling, and family risk assessment.
How to Prepare
- Use sterile techniques for blood collection.
- Label sample correctly with patient details.
- For FTA cards, allow blood to dry completely before packaging.
- Ensure sample is delivered to the lab within 24 hours for optimal stability.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic diagnosis through NGS testing is vital for managing Schindler disease, allowing for timely intervention and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrectly labeled or unlabeled samples
- Contaminated samples
Understanding Your Results
Consult a doctor or genetic specialist if the test results are positive, if there is a family history of Schindler disease, or if symptoms such as developmental delay, seizures, or muscle weakness are present.
Limitations
- ⚠May not detect all types of genetic variations, such as large deletions or rearrangements
- ⚠Results require interpretation by a qualified geneticist or healthcare provider
- ⚠Does not provide information on disease severity or prognosis
- ⚠Limited to analysis of the NAGA gene; other genes are not covered
Risks & Considerations
- ●Minimal physical risk from blood draw, such as bruising or discomfort
- ●Potential psychological impact of test results, requiring counseling support
Interfering Factors
- ●DNA degradation due to improper sample storage or handling
- ●Sample contamination during collection or processing
- ●Insufficient DNA quantity or quality
- ●Presence of inhibitors in the sample affecting NGS chemistry
Compare With Similar Tests
| Test | NAGA Gene Schindler disease NGS Genetic Test | Alpha-NAGA Enzyme Assay | Lysosomal Storage Disorder Panel | Whole Exome Sequencing | Genetic Counseling Session |
|---|---|---|---|---|---|
| Comparison | NAGA Gene Schindler disease NGS Genetic Test |
Frequently Asked Questions
What is Schindler disease?
What are the symptoms of Schindler disease?
How is Schindler disease diagnosed?
What does the NGS genetic test for Schindler disease involve?
What is the cost of the NAGA Gene Schindler disease NGS Genetic Test?
Is home sample collection available for this test?
How long does it take to get the test results?
What sample type is required for the test?
Is fasting required before the test?
What should I do if the test result is positive?
Can this test detect all mutations in the NAGA gene?
Is genetic counseling provided with the test?
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