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DNA Labs India

SGSH Gene Mucopolysaccharidosis type 3A NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SGSH Gene Mucopolysaccharidosis type 3A NGS Genetic Test

Short Name: SGSH Gene Test

Also known as: Sanfilippo syndrome type A test, SGSH gene analysis, MPS IIIA genetic test

SGSH Gene Mucopolysaccharidosis type 3A NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)All ages, but commonly diagnosed in early childhood🏠 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 confirm diagnosis of Mucopolysaccharidosis type 3A by detecting mutations in the SGSH gene, guide clinical management, and facilitate genetic counseling for affected families.

Test Code
2184
ICD Code
E76.22
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Inform the healthcare provider about any medications or recent transfusions.

Method: Venipuncture or FTA card finger prick

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample or prepare an FTA card sample.

Step 3

Report Delivery

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

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:No fasting required. Provide clinical history and family pedigree during genetic counseling.
2
During the Test:DNA extraction and next-generation sequencing of the SGSH gene.
3
After the Test:Report generation with genetic interpretation and counseling session.

About This Test

Who Should Get This Test

To confirm diagnosis of Mucopolysaccharidosis type 3A by detecting mutations in the SGSH gene, guide clinical management, and facilitate genetic counseling for affected families.

How to Prepare

  • Use aseptic technique for blood draw
  • Label samples accurately with patient details
  • For FTA card, ensure proper blood spot application

Doctor's Notes

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

"Early genetic testing for Mucopolysaccharidosis type 3A is crucial for timely intervention, management, and informed family planning. Genetic counseling helps families understand risks and implications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Sample Volume5 ml blood
ContainerEDTA tube for blood, sterile container for DNA
Collection MethodVenipuncture or FTA card finger prick

Sample Stability

Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted blood sample
  • Incorrect sample labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the SGSH gene. A positive result confirms diagnosis of Mucopolysaccharidosis type 3A, while a negative result may require further clinical evaluation.
📊

Confirms diagnosis of Mucopolysaccharidosis type 3A. Genetic counseling recommended.

📊

Mucopolysaccharidosis type 3A unlikely, but clinical correlation advised.

📊

Further testing and family studies may be needed for clarity.

⚠️ When to Consult a Doctor:

If symptoms suggestive of Mucopolysaccharidosis type 3A are present, or for family planning if there is a known family history.

Limitations

  • ⚠May not detect all possible genetic variations
  • ⚠Results may include variants of uncertain significance (VUS)
  • ⚠Does not assess enzyme activity directly

Risks & Considerations

  • ●Minor bruising or pain at blood draw site
  • ●Rare risk of infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Degraded or insufficient DNA sample
  • ●Contamination during sample collection
  • ●Previous blood transfusions within 3 months

Compare With Similar Tests

TestSGSH Gene Mucopolysaccharidosis type 3A NGS Genetic Test
ComparisonSGSH Gene Mucopolysaccharidosis type 3A NGS Genetic Test

Frequently Asked Questions

What is Mucopolysaccharidosis type 3A?
Mucopolysaccharidosis type 3A (MPS IIIA), or Sanfilippo syndrome type A, is a rare genetic disorder where the body cannot break down heparan sulfate due to mutations in the SGSH gene, leading to progressive neurological damage.
Why is the SGSH gene test recommended?
It is recommended to confirm diagnosis in individuals with symptoms like delayed speech, behavioral issues, seizures, or joint stiffness, and for families with a history of MPS IIIA.
How is the SGSH gene test performed?
The test uses next-generation sequencing (NGS) to analyze DNA from a blood sample for mutations in the SGSH gene.
What sample is required for the test?
A blood sample, extracted DNA, or a blood drop on an FTA card is needed.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How much does the SGSH gene test cost in India?
The cost is INR 20,000, which includes sample collection, analysis, and genetic counseling.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample receipt.
What do the results mean?
A positive result confirms MPS IIIA diagnosis; a negative result suggests it's unlikely, but clinical correlation is advised. Variants of uncertain significance may require further testing.
Is home sample collection available?
Yes, free home sample collection is available across India for online bookings.
Can this test be used for prenatal diagnosis?
For prenatal or carrier testing, consult a genetic counselor as additional procedures may be needed.
What are the risks of the test?
Risks are minimal, limited to blood draw discomfort, bruising, or rare infection. Psychological impact of results should be discussed with a counselor.
How accurate is the SGSH gene test?
The NGS technology used offers high accuracy for detecting pathogenic mutations in the SGSH gene, but no genetic test is 100% definitive for all variants.
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

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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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