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DNA Labs India

GALNS Gene Mucopolysaccharidosis type 4A NGS Genetic Test

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GALNS Gene Mucopolysaccharidosis type 4A NGS Genetic Test

Short Name: GALNS Gene MPS 4A Test

Also known as: Morquio syndrome type A, MPS IVA, GALNS deficiency

GALNS Gene Mucopolysaccharidosis type 4A NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 TestAll Ages🏠 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

To diagnose Mucopolysaccharidosis type 4A by detecting mutations in the GALNS gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
2187
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
NGS Technology
Step 1

Sample Collection

Clinical history review and genetic counseling to draw a pedigree chart of family members affected with MPS 4A.

Method: Phlebotomy or finger-prick

Step 2

Laboratory Analysis

Blood sample collected via phlebotomy or finger-prick under sterile conditions.

Step 3

Report Delivery

Sample labeled and transported to the lab at ambient room temperature for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment to determine test necessity.
2
During the Test:NGS sequencing of the GALNS gene from the provided sample.
3
After the Test:Results analyzed and reported with recommendations for follow-up.

About This Test

Who Should Get This Test

To diagnose Mucopolysaccharidosis type 4A by detecting mutations in the GALNS gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use appropriate collection tubes
  • Avoid hemolysis during blood draw
  • Transport sample promptly to maintain stability

Doctor's Notes

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

"Early diagnosis through NGS testing is crucial for managing MPS 4A symptoms, enabling genetic counseling and tailored treatment plans to improve patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-5 mL blood
ContainerEDTA tube or FTA card
Collection MethodPhlebotomy or finger-prick

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for up to 1 year at -20°C
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted samples
  • Improper labeling or container

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the GALNS gene. Positive results confirm MPS 4A diagnosis, while negative results may require further testing if clinical suspicion remains.
Positive: Pathogenic variant detected, confirming MPS 4A diagnosis
Negative: No pathogenic variant detected, but clinical correlation is needed
Variant of Uncertain Significance (VUS): Genetic counseling recommended
⚠️ When to Consult a Doctor:

Consult a geneticist or healthcare provider immediately after receiving positive or uncertain results for further evaluation, management, and family planning.

Limitations

  • ⚠May not detect all types of mutations or intronic variants
  • ⚠Requires genetic counseling for result interpretation

Risks & Considerations

  • ●Minimal risk from blood draw, such as slight pain or bruising

Interfering Factors

  • ●Hemolyzed blood samples
  • ●Contaminated or degraded DNA samples

Compare With Similar Tests

TestGALNS Gene Mucopolysaccharidosis type 4A NGS Genetic TestMPS Panel TestEnzyme Assay Test
ComparisonGALNS Gene Mucopolysaccharidosis type 4A NGS Genetic TestBroadly tests for multiple MPS types, while GALNS test is specific for MPS 4A.Measures enzyme activity, while NGS detects gene mutations for precise diagnosis.

Frequently Asked Questions

What is Mucopolysaccharidosis type 4A?
MPS 4A is a rare genetic disorder affecting the skeletal system due to deficiency of the GALNS enzyme, leading to GAG accumulation and various health issues.
How is the GALNS Gene NGS Test performed?
The test uses Next-Generation Sequencing to analyze DNA from a blood or saliva sample for mutations in the GALNS gene.
What is the cost of this test in India?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the common symptoms of MPS 4A?
Symptoms include short stature, joint pain, skeletal abnormalities, respiratory problems, and vision or hearing issues.
Is genetic counseling required before testing?
Yes, a genetic counseling session is recommended to understand the test implications and draw a family pedigree chart.
What does a positive result mean?
A positive result confirms the presence of pathogenic GALNS gene mutations, diagnosing MPS 4A and guiding management.
Can this test detect all mutations?
NGS provides comprehensive analysis but may not detect all mutation types, such as deep intronic variants.
Is the test covered by insurance?
Coverage depends on your insurance plan; check with your provider for details.
Where can I get this test done?
You can book the test at DNA Labs India online, with services available in major cities across India.
What should I do after receiving the results?
Consult a geneticist or healthcare provider for interpretation, counseling, and appropriate medical management.
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.

LIMS Integration

Your Data Privacy

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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