NPC2 Gene Niemann-Pick disease type C2 NGS Genetic Test
Short Name: NPC2 NGS Genetic Test
Also known as: NPC2 deficiency, Niemann-Pick type C2
NPC2 Gene Niemann-Pick disease type C2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 2-3 weeks from sample receipt. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To identify mutations in the NPC2 gene for definitive diagnosis of Niemann-Pick disease type C2, enabling early intervention, symptom management, and genetic counseling for affected families.
- Test Code
- 2193
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 2-3 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. Inform the healthcare provider about any medications or medical conditions.
Method: Venipuncture
Laboratory Analysis
A small blood sample will be drawn from a vein in your arm using a sterile needle.
Report Delivery
Apply gentle pressure to the puncture site with a bandage to stop any bleeding.
Timeline: 2-3 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the NPC2 gene for definitive diagnosis of Niemann-Pick disease type C2, enabling early intervention, symptom management, and genetic counseling for affected families.
How to Prepare
- Ensure proper patient identification
- Use sterile collection equipment
- Label samples accurately with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for NPC2 is crucial for accurate diagnosis, enabling early intervention and informed family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Incorrect labeling or documentation
- Insufficient sample volume
- Contaminated container
Understanding Your Results
If you experience symptoms such as neurological decline, hepatosplenomegaly, or have a family history of Niemann-Pick disease, consult a geneticist or healthcare provider for evaluation and testing.
Limitations
- ⚠May not detect all possible genetic variants
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minor bruising or discomfort at the puncture site
- ●Rare risk of infection or fainting
Interfering Factors
- ●Sample contamination
- ●DNA degradation
- ●Insufficient sample volume
- ●Improper storage conditions
Frequently Asked Questions
What is NPC2 Gene Niemann-Pick Disease Type C2?
What are the common symptoms of NPC2?
How is NPC2 diagnosed?
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Reference 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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