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ARSA Gene Metachromatic Leukodystrophy NGS Genetic Test

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ARSA Gene Metachromatic Leukodystrophy NGS Genetic Test

Short Name: ARSA MLD NGS Test

Also known as: MLD Genetic Test, ARSA Gene Test, Metachromatic Leukodystrophy DNA Test

ARSA Gene Metachromatic Leukodystrophy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to diagnose Metachromatic Leukodystrophy by identifying mutations in the ARSA gene using NGS technology. It helps confirm clinical suspicion, guide treatment decisions, and facilitate family screening and genetic counseling.

Test Code
4724
ICD Code
E75.25
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling session recommended to discuss test implications and draw a family pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or use of FTA card for one drop of blood.

Step 3

Report Delivery

Sample sent to lab for NGS analysis; results discussed with genetic counselor.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss risks, benefits, and implications of testing.
2
During the Test:Simple blood draw or FTA card collection; minimal discomfort.
3
After the Test:Results available in 3-4 weeks; follow-up with genetic counselor for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Metachromatic Leukodystrophy by identifying mutations in the ARSA gene using NGS technology. It helps confirm clinical suspicion, guide treatment decisions, and facilitate family screening and genetic counseling.

How to Prepare

  • Ensure proper identification of patient
  • Use sterile collection tubes
  • Label samples correctly
  • Transport at ambient room temperature

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for Metachromatic Leukodystrophy is vital for management and family planning. Consult a genetic counselor for personalized guidance."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ARSA gene. Positive results confirm MLD diagnosis, while negative results may require further testing if symptoms persist.
Positive: Pathogenic variants detected, confirming MLD diagnosis
Negative: No pathogenic variants detected, but clinical correlation needed
Variant of Uncertain Significance (VUS): Further evaluation recommended
⚠️ When to Consult a Doctor:

If symptoms of MLD are present, such as developmental delays or neurological decline, or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all rare or novel mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare risk of infection
  • ●Emotional impact of results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Compare With Similar Tests

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ComparisonARSA Gene Metachromatic Leukodystrophy NGS Genetic Test

Frequently Asked Questions

What is the ARSA Gene Metachromatic Leukodystrophy NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the ARSA gene, which causes Metachromatic Leukodystrophy (MLD), a disorder affecting the nervous system.
Who should consider this test?
Individuals with symptoms of MLD, such as developmental delays or neurological issues, or those with a family history of the disorder.
What is the cost of the test in India?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
How is the sample collected?
A blood sample is collected via venipuncture, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the results mean?
Positive results confirm MLD diagnosis by identifying pathogenic variants in the ARSA gene. Negative results may require further evaluation if symptoms persist.
Is genetic counseling recommended?
Yes, genetic counseling is recommended before and after testing to understand implications and interpret results.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw, but emotional impact of results should be considered.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What is Metachromatic Leukodystrophy?
MLD is a genetic disorder caused by ARSA gene mutations, leading to sulfatide buildup and damage to the nervous system's myelin sheath.
How accurate is this test?
NGS technology provides high accuracy in detecting mutations, but results should be correlated with clinical findings and genetic counseling.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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