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HGSNAT Gene Mucopolysaccharidosis type 3C NGS Genetic Test

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HGSNAT Gene Mucopolysaccharidosis type 3C NGS Genetic Test

Short Name: HGSNAT MPS 3C NGS Test

Also known as: Sanfilippo syndrome type C, MPS IIIC

HGSNAT Gene Mucopolysaccharidosis type 3C 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

🩺 Medically Reviewed By

Overview

To identify mutations in the HGSNAT gene that cause Mucopolysaccharidosis type 3C, aiding in diagnosis and genetic counseling.

Test Code
2179
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

Provide clinical history and undergo genetic counseling. No fasting required.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or a drop on FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site. No special aftercare.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling. No fasting required.
2
During the Test:Blood sample will be collected via venipuncture or a drop on FTA card.
3
After the Test:Apply pressure to the puncture site. No special aftercare.

About This Test

Who Should Get This Test

To identify mutations in the HGSNAT gene that cause Mucopolysaccharidosis type 3C, aiding in diagnosis and genetic counseling.

How to Prepare

  • Ensure proper sample labeling
  • Transport at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"This test is crucial for early diagnosis of Sanfilippo syndrome type C, enabling timely management and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube for blood samples
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood samples stable for 48 hours at room temperature
DNA samples stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Unlabeled samples

Understanding Your Results

Results indicate the presence or absence of mutations in the HGSNAT gene associated with Mucopolysaccharidosis type 3C.
Positive result: Mutation detected, confirm diagnosis with clinical assessment
Negative result: No mutation detected, but clinical correlation is needed
Variant of uncertain significance: Further testing may be required
⚠️ When to Consult a Doctor:

If symptoms such as developmental delay, behavioral issues, or seizures are present, or if there is a family history of MPS 3C.

Limitations

  • May not detect all types of mutations
  • Does not assess other genes associated with MPS

Risks & Considerations

  • Minor bruising at puncture site
  • Rare risk of infection

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Incorrect sample collection

Frequently Asked Questions

What is the HGSNAT Gene Test?
The HGSNAT Gene Test is an NGS genetic test to identify mutations in the HGSNAT gene that cause Mucopolysaccharidosis type 3C.
Who should get tested for Mucopolysaccharidosis type 3C?
Individuals with symptoms such as developmental delay, behavioral problems, or seizures, or those with a family history of MPS 3C.
What are the symptoms of Sanfilippo syndrome type C?
Symptoms include developmental delay, behavioral problems, speech difficulties, seizures, hyperactivity, and loss of previously acquired skills.
How is the test performed?
The test uses next-generation sequencing to analyze the HGSNAT gene from a blood or DNA sample.
What is the cost of the test?
The test costs INR 20,000, with free home sample collection available.
Is home sample collection available?
Yes, free home sample collection is offered in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
What do positive results mean?
Positive results indicate the presence of mutations in the HGSNAT gene, confirming a diagnosis of MPS 3C.
What if the test is negative?
Negative results mean no mutations were detected, but clinical correlation is necessary as symptoms may still exist.
Are there any risks associated with the test?
Risks are minimal, including minor bruising at the puncture site.
Can this test be used for prenatal diagnosis?
This test is typically for diagnostic purposes; consult a genetic counselor for prenatal options.
How accurate is the NGS genetic test?
NGS technology provides high accuracy, but results should be interpreted by a genetic specialist.
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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