GNPTAB Gene Mucolipidosis type 2 alpha/beta NGS Genetic Test
Short Name: GNPTAB Gene Test
Also known as: Mucolipidosis II, I-cell disease
GNPTAB Gene Mucolipidosis type 2 alpha/beta 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 detect pathogenic mutations in the GNPTAB gene for the diagnosis of Mucolipidosis Type 2 Alpha/Beta, aiding in clinical management and genetic counseling.
- Test Code
- 4729
- 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 family members affected with Mucolipidosis type 2 alpha/beta.
Method: Venipuncture or FTA card collection
Laboratory Analysis
Blood sample collection or DNA extraction as per standard procedures.
Report Delivery
Sample is sent to the laboratory for NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic mutations in the GNPTAB gene for the diagnosis of Mucolipidosis Type 2 Alpha/Beta, aiding in clinical management and genetic counseling.
How to Prepare
- Fasting is not required unless specified by a physician.
- Blood sample: Collect in EDTA tube.
- FTA card: One drop of blood on FTA card.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for Mucolipidosis Type 2 Alpha/Beta is essential for accurate diagnosis and management. Early detection can improve patient outcomes and guide family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Positive
Pathogenic variant detected, confirming diagnosis of Mucolipidosis Type 2 Alpha/Beta.
Negative
No pathogenic variants detected, but clinical correlation is advised.
If symptoms of Mucolipidosis Type 2 Alpha/Beta are present, or if there is a family history of the disorder, consult a healthcare provider for genetic testing and counseling.
Risks & Considerations
- ●Psychological impact of genetic diagnosis
- ●Implications for family members
Frequently Asked Questions
What is Mucolipidosis Type 2 Alpha/Beta?
What causes Mucolipidosis Type 2 Alpha/Beta?
What are the symptoms of Mucolipidosis Type 2 Alpha/Beta?
How is Mucolipidosis Type 2 Alpha/Beta diagnosed?
What is the GNPTAB Gene NGS Genetic Test?
What sample is required for the test?
How long does it take to get results?
What is the cost of the test?
Is home sample collection available?
What should I do before the test?
How accurate is the genetic test?
Can genetic testing help with family planning?
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₹20,000Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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