Sphingolipidosis Panel 1 Test
Short Name: Sphingolipidosis Panel 1
Sphingolipidosis Panel 1 Test test available at DNA Labs India for ₹12,000. Uses Enzyme assay, Genetic mutation analysis on Whole blood samples. Results in Reports will be available within 4 days after sample receipt.. 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 support the diagnosis of metachromatic leukodystrophy, GM1 gangliosidosis, GM2 gangliosidosis, Gaucher disease, and Niemann-Pick disease.
- Test Code
- 3656
- Price
- ₹12,000
- Sample Type
- Whole blood
- Result Time
- Reports will be available within 4 days after sample receipt.
- Fasting Required
- No
- Method
- Enzyme assay, Genetic mutation analysis
Sample Collection
No special preparation is required. Provide a brief clinical history with the test request.
Method: Venous blood collection
Laboratory Analysis
A trained healthcare worker will collect a venous blood sample in the required EDTA or Sodium Heparin tubes.
Report Delivery
No specific aftercare is needed. You may resume normal activities after the blood draw.
Timeline: Reports will be available within 4 days after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To support the diagnosis of metachromatic leukodystrophy, GM1 gangliosidosis, GM2 gangliosidosis, Gaucher disease, and Niemann-Pick disease.
How to Prepare
- Collect 10 mL whole blood in EDTA or Sodium Heparin tubes
- Ship the sample refrigerated within 48 hours
- Do not freeze the sample
- Clinical history must accompany the sample
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"A multidisciplinary approach, including clinical examination, enzyme activity, and molecular analysis, is essential for interpreting sphingolipidosis panel results."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Frozen sample
- Haemolysed sample
- Inadequate volume less than 7.5 mL
- Sample received after 48 hours of collection
- Missing clinical history
Understanding Your Results
Pathogenic variant detected
Consistent with a diagnosis of the associated sphingolipidosis when clinical findings support it.
Variant of uncertain significance
Additional testing or family segregation studies may be required before diagnosis can be assigned.
No pathogenic variant detected
Does not exclude sphingolipidosis; enzyme analysis and clinical evaluation remain important.
If you or your child has unexplained developmental delay, seizures, loss of motor skills, organomegaly, or a family history of sphingolipidosis, consult a doctor for further evaluation.
Limitations
- ⚠Not all mutations in the tested genes cause sphingolipidosis
- ⚠A negative result does not rule out a sphingolipidosis
- ⚠The panel may not detect every disease-causing variant
- ⚠Results should be interpreted with clinical and biochemical correlation
Risks & Considerations
- ●Minimal pain or bruising at the needle site
- ●Mild dizziness or lightheadedness during the blood draw
Interfering Factors
- ●Haemolysis or clotted blood sample
- ●Delayed transport beyond 48 hours
- ●Freezing of the blood sample
- ●Previous bone marrow transplantation may affect DNA-based results
Frequently Asked Questions
What is the Sphingolipidosis Panel 1 test?
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What sample is needed for the test?
Do I need to fast before the test?
How should the sample be transported?
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Is home sample collection available?
What genes are included in the panel?
What does a negative result mean?
Who should consider this test?
How are sphingolipidoses inherited?
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