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GNS Gene Mucopolysaccharidosis type 3D NGS Genetic Test

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GNS Gene Mucopolysaccharidosis type 3D NGS Genetic Test

Short Name: GNS Gene MPS IIID NGS Test

Also known as: Sanfilippo syndrome type D, MPS IIID

GNS Gene Mucopolysaccharidosis type 3D 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.

Next-Generation Sequencing (NGS)🏠 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 3D by identifying mutations in the GNS gene, enabling early treatment, management, and genetic counseling.

Test Code
2181
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

No special preparation required. Inform the lab of any medications or recent medical procedures.

Method: Venipuncture or finger prick for FTA card

Step 2

Laboratory Analysis

A blood sample is drawn via venipuncture or a finger prick for FTA card collection.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to understand implications and draw a family pedigree.
2
During the Test:DNA is extracted from the blood sample and analyzed using NGS technology for GNS gene sequencing.
3
After the Test:Results are reviewed by geneticists and a report is generated. Follow-up counseling may be advised.

About This Test

Who Should Get This Test

To diagnose Mucopolysaccharidosis type 3D by identifying mutations in the GNS gene, enabling early treatment, management, and genetic counseling.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection equipment
  • Label the sample correctly with patient details

Doctor's Notes

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

"Early genetic testing for MPS IIID is crucial for diagnosis, management, and family planning, especially in cases with suggestive symptoms or family history."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick for FTA card

Sample Stability

Blood in EDTA tube: stable for 7 days at room temperature
FTA card: stable for years at room temperature
Sample Rejection Criteria:
  • Clotted or hemolyzed samples
  • Incorrectly labeled or unlabeled samples
  • Insufficient sample volume

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the GNS gene. A positive result confirms diagnosis, while a negative result may require further testing if symptoms persist.
Positive: Pathogenic variant detected, indicating MPS type 3D
Negative: No pathogenic variants found, but clinical correlation is needed
Variant of uncertain significance: Requires genetic counseling and family studies
⚠️ When to Consult a Doctor:

Consult a genetic specialist or pediatric neurologist if symptoms suggestive of MPS IIID are present, or for genetic counseling after a positive test result.

Limitations

  • ⚠May not detect all rare or novel mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not suitable for prenatal diagnosis without confirmatory tests

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results, requiring counseling

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Recent blood transfusion
  • ●Insufficient sample volume

Compare With Similar Tests

TestGNS Gene Mucopolysaccharidosis type 3D NGS Genetic TestSGSH Gene MPS IIIA NGS TestHGSNAT Gene MPS IIIC NGS TestNAGLU Gene MPS IIIB NGS TestUrine Glycosaminoglycan Test
ComparisonGNS Gene Mucopolysaccharidosis type 3D NGS Genetic Test

Frequently Asked Questions

What is GNS Gene Mucopolysaccharidosis type 3D?
It is a rare genetic disorder caused by mutations in the GNS gene, leading to Sanfilippo syndrome type D, a lysosomal storage disorder.
Who should consider this genetic test?
Individuals with symptoms like delayed development, behavioral issues, seizures, or a family history of MPS IIID.
How is the test performed?
DNA is extracted from a blood sample and analyzed using Next-Generation Sequencing (NGS) to detect mutations in the GNS gene.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
What do the results indicate?
Results show if pathogenic mutations in the GNS gene are present, confirming or ruling out MPS type 3D.
Is the test covered by insurance?
Coverage varies; check with your insurance provider for specific policies.
Are there any risks associated with the test?
Risks are minimal, mainly related to blood draw, but genetic results may have psychological impacts.
How accurate is the NGS genetic test?
NGS technology offers high accuracy for detecting mutations, but confirmatory testing may be needed in some cases.
Can this test be used for prenatal diagnosis?
It is not typically used for prenatal diagnosis; consult a genetic counselor for prenatal testing options.
What should I do after receiving the results?
Consult a genetic specialist or healthcare provider for interpretation, management, 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.

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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