GM1 Gangliosidosis Quantitative Blood Test
Short Name: GM1 Gangliosidosis Test
Also known as: Beta-galactosidase deficiency test, GM1 ganglioside quantitative blood test
GM1 Gangliosidosis Quantitative Blood Test test available at DNA Labs India for ₹1,989. Uses Enzyme Assay on Whole blood samples. Results in Report available in 4 days via online portal, email, or WhatsApp.. 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 GM1 Gangliosidosis Quantitative Blood Test is to detect and quantify the level of GM1 ganglioside in the blood. This helps in diagnosing GM1 Gangliosidosis, a rare genetic disorder that affects the nervous system by causing damage due to ganglioside accumulation. By measuring enzyme activity or metabolite levels, the test confirms the condition, differentiating it from other neurological disorders, and is crucial for initiating early treatment, genetic counseling, and family planning.
- Test Code
- 676
- Price
- ₹1,989
- Sample Type
- Whole blood
- Result Time
- Report available in 4 days via online portal, email, or WhatsApp.
- Fasting Required
- No
- Method
- Enzyme Assay
Sample Collection
No specific preparation required. Provide clinical details and medical history.
Method: Venipuncture
Laboratory Analysis
A healthcare professional will draw a blood sample from a vein in the arm using standard venipuncture.
Report Delivery
Apply pressure to the puncture site to stop bleeding. You can resume normal activities immediately.
Timeline: Report available in 4 days via online portal, email, or WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the GM1 Gangliosidosis Quantitative Blood Test is to detect and quantify the level of GM1 ganglioside in the blood. This helps in diagnosing GM1 Gangliosidosis, a rare genetic disorder that affects the nervous system by causing damage due to ganglioside accumulation. By measuring enzyme activity or metabolite levels, the test confirms the condition, differentiating it from other neurological disorders, and is crucial for initiating early treatment, genetic counseling, and family planning.
How to Prepare
- Use specified EDTA or sodium heparin tubes
- Ship refrigerated; do not freeze
- Include clinical details and symptoms with sample
- Ensure sufficient volume of at least 7.5 mL
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As an OB-GYN, I recommend this test for families with a history of genetic disorders to ensure early diagnosis and management, especially during prenatal care."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient volume (<7.5 mL)
- Improper container or storage
- Missing clinical details or consent
Understanding Your Results
Consult a doctor if symptoms such as developmental delays, seizures, muscle weakness, or organ enlargement are present, or if there is a family history of genetic disorders.
Limitations
- ⚠Cannot distinguish between different types of GM1 Gangliosidosis without additional genetic testing
- ⚠Reference ranges may vary between laboratories and age groups
- ⚠False positives or negatives possible in rare cases
- ⚠Test may not detect carrier status without specific assays
Risks & Considerations
- ●Minor pain or bruising at the blood draw site
- ●Rare risk of infection
- ●Lightheadedness in some individuals
Interfering Factors
- ●Hemolyzed blood samples
- ●Improper sample storage (not refrigerated)
- ●Recent blood transfusion
- ●Concurrent infections affecting enzyme levels
- ●Certain medications that alter enzyme activity
Frequently Asked Questions
What is GM1 Gangliosidosis?
Who should take the GM1 Gangliosidosis Quantitative Blood Test?
How is the test performed?
What do abnormal results mean?
Is fasting required for this test?
How long does it take to get results?
Is the test covered by insurance?
What are the symptoms of GM1 Gangliosidosis?
Can the test be done at home?
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