Gaucher Disease Quantitative Blood Test
Also known as: Glucocerebrosidase Enzyme Test, GBA Enzyme Assay
Gaucher Disease Quantitative Blood Test test available at DNA Labs India for ₹3,500. Uses Enzyme Assay on Whole Blood samples. Results in Reports are typically available within 4 days after 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
The purpose of the Gaucher Disease Quantitative Blood Test is to diagnose Gaucher Disease by measuring glucocerebrosidase enzyme activity in the blood, determine the type of Gaucher Disease, and guide appropriate treatment planning, such as enzyme replacement therapy.
- Test Code
- 652
- Price
- ₹3,500
- Sample Type
- Whole Blood
- Result Time
- Reports are typically available within 4 days after sample receipt.
- Fasting Required
- No
- Method
- Enzyme Assay
Sample Collection
No special preparation required. Provide complete clinical details and family history with the sample.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in your arm using a needle and collected in specified tubes.
Report Delivery
Apply pressure to the puncture site with a cotton ball to stop bleeding. Avoid heavy lifting with the affected arm for a few hours.
Timeline: Reports are typically available within 4 days after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the Gaucher Disease Quantitative Blood Test is to diagnose Gaucher Disease by measuring glucocerebrosidase enzyme activity in the blood, determine the type of Gaucher Disease, and guide appropriate treatment planning, such as enzyme replacement therapy.
How to Prepare
- Collect 10 mL (minimum 7.5 mL) whole blood in 3 Lavender Top (EDTA) OR Green Top (Sodium heparin) tubes
- Ship refrigerated immediately after collection
- Do not freeze the sample
- Include clinical details and patient information with the sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early detection of Gaucher Disease through quantitative blood testing is crucial for timely intervention and management, especially in at-risk families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or lipemic sample
- Frozen sample
- Insufficient sample volume
- Missing clinical details or patient information
Understanding Your Results
Low glucocerebrosidase activity
Suggestive of Gaucher Disease. Correlate with clinical symptoms and consider genetic confirmation testing.
Action: Consult a genetic specialist for diagnosis and management.
Normal glucocerebrosidase activity
Unlikely Gaucher Disease if symptoms are absent. Clinical correlation recommended if symptoms persist.
Action: Discuss with physician for further evaluation.
Consult a doctor if you experience symptoms of Gaucher Disease, such as unexplained anemia, bone pain, or enlarged organs, or if test results indicate abnormal enzyme levels.
Limitations
- ⚠Does not definitively confirm carrier status
- ⚠Requires correlation with clinical symptoms and genetic testing for confirmation
- ⚠May not distinguish between Gaucher Disease subtypes without additional testing
Risks & Considerations
- ●Minor bruising or pain at the puncture site
- ●Rare risk of infection
- ●Dizziness or lightheadedness during blood draw
Interfering Factors
- ●Hemolysis
- ●Lipemia
- ●Recent blood transfusion
- ●Sample improper storage
Compare With Similar Tests
| Test | Gaucher Disease Quantitative Blood Test | GBA Gene Mutation Analysis | Lysosomal Enzyme Panel |
|---|---|---|---|
| Comparison | Gaucher Disease Quantitative Blood Test |
Frequently Asked Questions
What is Gaucher Disease?
How is the Gaucher Disease Quantitative Blood Test performed?
What are the symptoms of Gaucher Disease?
What does a low glucocerebrosidase level indicate?
Is fasting required for this test?
How much does the test cost?
Where can I get this test done?
How long does it take to get results?
Is home collection available for this test?
What are the treatment options for Gaucher Disease?
Can this test detect carriers of Gaucher Disease?
How accurate is the Gaucher Disease Quantitative Blood Test?
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