Metachromatic Leucodystrophy Quantitative Blood Test
Short Name: MLD Quantitative Blood Test
Also known as: MLD Quantitative Blood Test, Arylsulfatase A (ASA) Activity Test, Metachromatic Leukodystrophy Enzyme Test
Metachromatic Leucodystrophy Quantitative Blood Test test available at DNA Labs India for ₹3,500. Uses Spectrophotometry on Whole blood samples. Results in Reports available 4 days after sample collection, delivered online or via email/WhatsApp.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to diagnose Metachromatic Leukodystrophy by measuring arylsulfatase A (ASA) enzyme activity in the blood, helping to evaluate disease severity, guide treatment decisions, and monitor progression in individuals with suspected MLD.
- Test Code
- 1226
- Price
- ₹3,500
- Sample Type
- Whole blood
- Result Time
- Reports available 4 days after sample collection, delivered online or via email/WhatsApp.
- Fasting Required
- No
- Method
- Spectrophotometry
Sample Collection
No specific preparation required. Provide brief clinical history.
Method: Venipuncture
Laboratory Analysis
Blood sample drawn via venipuncture into specified tubes.
Report Delivery
Sample shipped refrigerated; do not freeze.
Timeline: Reports available 4 days after sample collection, delivered online or via email/WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose Metachromatic Leukodystrophy by measuring arylsulfatase A (ASA) enzyme activity in the blood, helping to evaluate disease severity, guide treatment decisions, and monitor progression in individuals with suspected MLD.
How to Prepare
- Collect 10 mL whole blood from 3 Lavender Top (EDTA) tubes or 3 Green Top (Sodium Heparin) tubes
- Ship refrigerated immediately after collection
- Do not freeze the sample
- Provide brief clinical history with the sample
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early detection of Metachromatic Leukodystrophy through quantitative blood testing is crucial for managing symptoms and planning care, especially in pediatric and prenatal contexts."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Incorrect sample volume
- Sample not shipped refrigerated
Understanding Your Results
Likely diagnosis of Metachromatic Leukodystrophy; correlate with symptoms and genetic tests
Range: Significantly reduced ASA activity
MLD less likely; consider other causes if symptoms persist
Range: Normal ASA activity
May indicate carrier status or early disease; further testing recommended
Range: Borderline low ASA activity
Consult a doctor if you or your child exhibits symptoms such as delayed development, walking difficulties, seizures, or cognitive decline, especially with a family history of MLD.
Limitations
- ⚠This test does not detect carrier status for MLD
- ⚠Results should be interpreted alongside clinical evaluation and genetic testing
- ⚠False negatives possible in rare cases with partial enzyme deficiency
Risks & Considerations
- ●Minor bruising or pain at blood draw site
- ●Rare risk of infection or bleeding
- ●No significant risks associated with the test itself
Interfering Factors
- ●Hemolyzed blood samples may affect results
- ●Recent blood transfusions could alter enzyme levels
- ●Certain medications may interfere with spectrophotometry
Compare With Similar Tests
| Test | Metachromatic Leucodystrophy Quantitative Blood Test | Genetic Testing for MLD | MRI Brain | Urine Sulfatide Test |
|---|---|---|---|---|
| Comparison | Metachromatic Leucodystrophy Quantitative Blood Test | Detects ARSA gene mutations; complementary to enzyme activity test for definitive diagnosis | Imaging to assess white matter damage; used alongside blood test for comprehensive evaluation | Measures sulfatide levels; less specific than blood enzyme test for MLD diagnosis |
Frequently Asked Questions
What is Metachromatic Leukodystrophy (MLD)?
Why is the Quantitative Blood Test important for MLD?
What are the symptoms of MLD?
How is the blood sample collected?
Is fasting required for this test?
What is the cost of the MLD Quantitative Blood Test?
How long does it take to get results?
Is home sample collection available?
What do low ASA enzyme levels indicate?
Can this test detect MLD carriers?
Are there any risks to the test?
What should I do if my child shows MLD symptoms?
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