Niemann Pick Disease Quantitative Blood Test
Also known as: ASM Enzyme Test, Acid Sphingomyelinase Quantitative Test
Niemann Pick Disease Quantitative Blood Test test available at DNA Labs India for ₹2,562. Uses Enzyme Assay on Whole blood samples. Results in Report available within 4 days from sample collection.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
To diagnose Niemann-Pick Disease by measuring Acid Sphingomyelinase (ASM) enzyme activity in the blood, aiding in early detection and management of this rare genetic disorder.
- Test Code
- 1306
- Price
- ₹2,562
- Sample Type
- Whole blood
- Result Time
- Report available within 4 days from sample collection.
- Fasting Required
- No
- Method
- Enzyme Assay
Sample Collection
Provide brief clinical history and inform about any medications or medical conditions.
Method: Venipuncture
Laboratory Analysis
Standard venipuncture procedure will be performed to collect blood sample.
Report Delivery
Apply pressure to the puncture site and use a bandage. Resume normal activities.
Timeline: Report available within 4 days from sample collection.
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Niemann-Pick Disease by measuring Acid Sphingomyelinase (ASM) enzyme activity in the blood, aiding in early detection and management of this rare genetic disorder.
How to Prepare
- Provide brief clinical history
- Collect in specified tubes
- Ship refrigerated, do not freeze
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"This test is crucial for early diagnosis of Niemann-Pick Disease, enabling timely management and genetic counseling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Incorrect tube type
- Insufficient sample volume
Understanding Your Results
If symptoms such as enlarged organs, neurological issues, or family history are present, consult a geneticist or pediatrician immediately.
Limitations
- ⚠May not detect carrier status
- ⚠Requires confirmation with genetic testing
- ⚠Results can vary based on sample handling
Risks & Considerations
- ●Minor bruising or pain at puncture site
- ●Small risk of infection
- ●Fainting or dizziness in rare cases
Interfering Factors
- ●Hemolysis in blood sample
- ●Recent blood transfusion
- ●Certain medications affecting enzyme activity
Compare With Similar Tests
| Test | Niemann Pick Disease Quantitative Blood Test | Genetic Testing | Bone Marrow Biopsy | Skin Biopsy | Lipid Profile |
|---|---|---|---|---|---|
| Comparison | Niemann Pick Disease Quantitative Blood Test |
Frequently Asked Questions
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