SMPD1 Gene Niemann-Pick disease type A/B NGS Genetic Test
Short Name: SMPD1 Gene NPD Type A/B Test
Also known as: Acid Sphingomyelinase Deficiency, NPD Type A/B
SMPD1 Gene Niemann-Pick disease type A/B 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 3 to 4 Weeks. 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
The purpose of this test is to diagnose Niemann-Pick disease type A/B by identifying mutations in the SMPD1 gene, assess the risk for individuals with a family history, and aid in genetic counseling and management planning.
- Test Code
- 2198
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
Provide clinical history of the patient and undergo genetic counseling to draw a pedigree chart of family members affected with Niemann-Pick disease type A/B.
Method: Venipuncture for blood sample; FTA card for single drop
Laboratory Analysis
A blood sample is collected via venipuncture, or a single drop on FTA card, with minimal discomfort.
Report Delivery
The sample is processed for DNA extraction and analyzed using NGS technology in the laboratory.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose Niemann-Pick disease type A/B by identifying mutations in the SMPD1 gene, assess the risk for individuals with a family history, and aid in genetic counseling and management planning.
How to Prepare
- Ensure proper labeling of the sample
- No special preparation required as fasting is not needed
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis through SMPD1 gene testing is vital for managing Niemann-Pick disease type A/B, allowing for timely intervention and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Consult a geneticist or neurologist immediately after receiving positive results for appropriate management, treatment options, and family planning.
Limitations
- ⚠May not detect all types of mutations in the SMPD1 gene
- ⚠Results should be interpreted in conjunction with clinical findings and family history
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results, requiring pre- and post-test counseling
Frequently Asked Questions
What is Niemann-Pick disease type A/B?
How is the SMPD1 gene test performed?
What is the cost of this test?
How long does it take to get results?
Is home sample collection available?
What are the symptoms of Niemann-Pick disease type A/B?
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What does a positive result mean?
Is the test covered by insurance?
Can this test detect carrier status?
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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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