GNPTAB Gene Mucolipidosis type 3 NGS Genetic Test
Also known as: Mucolipidosis Type III, ML III
GNPTAB Gene Mucolipidosis type 3 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To diagnose Mucolipidosis type 3 by detecting pathogenic mutations in the GNPTAB gene using NGS technology, aiding in clinical management and genetic counseling.
- Test Code
- 4730
- 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
Genetic counseling session recommended to discuss test implications and draw a family pedigree chart.
Laboratory Analysis
Blood sample collected via venipuncture or use of FTA card for one drop of blood.
Report Delivery
Sample processed for NGS analysis; results reviewed and reported by clinical geneticists.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Mucolipidosis type 3 by detecting pathogenic mutations in the GNPTAB gene using NGS technology, aiding in clinical management and genetic counseling.
How to Prepare
- Ensure proper sample labeling
- Use sterile collection tubes
- Transport sample at ambient temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early diagnosis through genetic testing is crucial for managing Mucolipidosis type 3 and providing appropriate care, especially for family planning and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Contaminated or hemolyzed samples
- Incorrect sample type
Understanding Your Results
If symptoms of Mucolipidosis type 3 are present, or if there is a family history of the disorder, consult a geneticist or metabolic specialist.
Limitations
- ⚠May not detect all types of mutations (e.g., large deletions/duplications)
- ⚠Results require interpretation by a genetic specialist
- ⚠Does not rule out other genetic disorders
Risks & Considerations
- ●Minimal physical risk from blood draw
- ●Psychological impact of genetic results
- ●Potential for uncertain findings
Interfering Factors
- ●Poor sample quality
- ●DNA contamination
- ●Hemolyzed or degraded samples
Frequently Asked Questions
What is Mucolipidosis type 3?
What is the GNPTAB gene?
How is the GNPTAB Gene Mucolipidosis Type 3 NGS Genetic Test performed?
What are the symptoms of Mucolipidosis type 3?
Who should consider this genetic test?
What is the cost of the test?
How long does it take to get results?
Is home sample collection available?
What does a positive result mean?
What are the treatment options after diagnosis?
Is genetic counseling provided with the test?
How accurate is the NGS genetic test?
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