Sphingolipidosis Panel 2 Test
Short Name: Sphingolipidosis Panel 2
Also known as: Sphingolipidosis Panel 2, Lysosomal Storage Disease Panel 2, Gaucher & Niemann-Pick Enzyme Panel
Sphingolipidosis Panel 2 Test test available at DNA Labs India for ₹5,500. Uses Enzyme Assay (Beta-Glucosidase, Sphingomyelinase) on Whole Blood samples. Results in Samples are processed daily by 4 pm. Reports are delivered within 4 days via your preferred method.. 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 the Sphingolipidosis Panel 2 Test is to detect enzyme deficiencies that cause Gaucher disease (beta-glucosidase deficiency) and Niemann-Pick disease types A and B (sphingomyelinase deficiency). Accurate detection supports clinical diagnosis, enables early intervention, and provides information for genetic counseling.
- Test Code
- 3651
- ICD Code
- E75.2
- Price
- ₹5,500
- Sample Type
- Whole Blood
- Result Time
- Samples are processed daily by 4 pm. Reports are delivered within 4 days via your preferred method.
- Fasting Required
- No
- Method
- Enzyme Assay (Beta-Glucosidase, Sphingomyelinase)
Sample Collection
No fasting required. Inform your doctor about all medications you are taking. Provide the relevant clinical history to the laboratory.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in your arm. A tourniquet will be applied for a short time. The collection takes only a few minutes.
Report Delivery
You may resume normal activities immediately. No special post-test care is necessary.
Timeline: Samples are processed daily by 4 pm. Reports are delivered within 4 days via your preferred method.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the Sphingolipidosis Panel 2 Test is to detect enzyme deficiencies that cause Gaucher disease (beta-glucosidase deficiency) and Niemann-Pick disease types A and B (sphingomyelinase deficiency). Accurate detection supports clinical diagnosis, enables early intervention, and provides information for genetic counseling.
How to Prepare
- No fasting required
- Clinical history must accompany the sample
- Use EDTA or Sodium Heparin tubes as specified
- Do not freeze the sample
- Ship refrigerated within 48 hours
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis of sphingolipidoses through this enzyme panel can guide timely management and informed family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Frozen samples (hemolysis and enzyme degradation)
- Grossly hemolyzed samples
- Samples without clinical history
- Incorrect tube type or container
Understanding Your Results
Low beta-glucosidase activity
Indicates possible Gaucher disease; clinical correlation and further testing recommended.
Low sphingomyelinase activity
Indicates possible Niemann-Pick disease type A or B; clinical correlation required.
Normal enzyme activities
Sphingolipidosis is less likely; other differential diagnoses should be explored.
Consult a clinical geneticist, pediatrician, or metabolic specialist if your symptoms or your child's symptoms suggest a lysosomal storage disorder, or if the test results show reduced enzyme activity.
Limitations
- ⚠Enzyme assay does not identify specific genetic mutations
- ⚠Carrier status may not be reliably detected by enzyme testing alone
- ⚠Results may require confirmation through molecular genetic testing
- ⚠Interpretation should be done in conjunction with clinical findings
Risks & Considerations
- ●Mild pain or discomfort at the venipuncture site
- ●Bruising or bleeding
- ●Rare risk of infection
Interfering Factors
- ●Hemolysis or improper sample storage may affect enzyme activity
- ●Recent blood transfusion may alter results
- ●Certain medications or metabolic conditions may interfere
- ●Age and laboratory reference ranges must be considered
Compare With Similar Tests
| Test | Sphingolipidosis Panel 2 Test | Sphingolipidosis Panel 1 | Whole Exome Sequencing |
|---|---|---|---|
| Comparison | Sphingolipidosis Panel 2 Test | Panel 1 typically covers additional enzymes like galactocerebrosidase and acid ceramidase. Panel 2 specifically focuses on Gaucher and Niemann-Pick enzymes. | WES provides a broader genetic analysis for inherited conditions, whereas Panel 2 is targeted to specific enzyme activities. |
Frequently Asked Questions
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