Skip to main content
DNA Labs India

HYAL1 Gene Mucopolysaccharidosis type 9 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

HYAL1 Gene Mucopolysaccharidosis type 9 NGS Genetic Test

Short Name: HYAL1 MPS Type 9 NGS Test

Also known as: HYAL1-Related Mucopolysaccharidosis, MPS Type IX, Hyaluronidase Deficiency

HYAL1 Gene Mucopolysaccharidosis type 9 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 from sample receipt. 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

To identify pathogenic mutations in the HYAL1 gene for the diagnosis of Mucopolysaccharidosis type 9, aiding in clinical management and genetic counseling.

Test Code
2190
Price
₹20,000
Sample Type
Blood or 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

Provide detailed clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Venipuncture or Finger Prick

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or finger prick onto an FTA card or into an EDTA tube.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Sample will be sent to the laboratory for analysis.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling and informed consent are recommended before testing.
2
During the Test:The test involves DNA extraction from the sample and NGS analysis of the HYAL1 gene.
3
After the Test:Discuss results with a healthcare provider for appropriate management and follow-up.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the HYAL1 gene for the diagnosis of Mucopolysaccharidosis type 9, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure patient identification and consent
  • Collect blood in a sterile EDTA tube or on an FTA card
  • Label the sample correctly with patient details
  • Store at room temperature and transport to lab within 24 hours

Doctor's Notes

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

"This test is crucial for early diagnosis and management of MPS type 9, helping families understand genetic risks and plan for care."

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 of blood
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture or Finger Prick

Sample Stability

Blood samples: Stable for 24 hours at room temperature
FTA card: Stable for several days at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Incorrect sample type or container
  • Insufficient sample volume
  • Missing patient information

Understanding Your Results

Results indicate whether pathogenic mutations in the HYAL1 gene are detected. A positive result confirms the diagnosis of Mucopolysaccharidosis type 9, while a negative result suggests no mutations found, but clinical correlation is advised.
Positive: Pathogenic variant detected – confirms MPS type 9
Negative: No pathogenic variants detected – consider other causes
Variant of uncertain significance: Requires further evaluation
⚠️ When to Consult a Doctor:

Consult a genetic specialist or pediatrician if symptoms are present or if there is a family history of Mucopolysaccharidosis type 9.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Results may include variants of uncertain significance (VUS)
  • ⚠Carrier status detection may be limited

Risks & Considerations

  • ●Minimal risk from blood draw: slight pain, bruising, or infection
  • ●Potential psychological impact of genetic results

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Insufficient sample volume
  • ●Presence of hemolysis in blood sample

Compare With Similar Tests

TestHYAL1 Gene Mucopolysaccharidosis type 9 NGS Genetic TestMucopolysaccharidosis PanelEnzyme Assay for Hyaluronidase
ComparisonHYAL1 Gene Mucopolysaccharidosis type 9 NGS Genetic Test

Frequently Asked Questions

What is HYAL1 Gene Mucopolysaccharidosis type 9?
It is a rare genetic disorder caused by mutations in the HYAL1 gene, leading to the inability to break down mucopolysaccharides and causing various symptoms.
What are the symptoms of Mucopolysaccharidosis type 9?
Symptoms include abnormal bone growth, joint stiffness, developmental delay, intellectual disability, enlarged liver and spleen, heart valve problems, short stature, and vision/hearing loss.
How is the HYAL1 Gene Test performed?
The test uses next-generation sequencing (NGS) to analyze DNA from a blood sample or extracted DNA to detect mutations in the HYAL1 gene.
What is the cost of the HYAL1 Gene NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, with potential discounts and home collection options available.
Who should consider getting this test?
Individuals with symptoms of MPS type 9, those with a family history of the disorder, or carriers seeking genetic confirmation.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
How long does it take to get the test results?
Results are typically delivered within 3 to 4 weeks after sample receipt.
Is the test covered by insurance or government schemes?
Coverage varies; check with specific schemes like PMJAY, CGHS, or private insurers. DNA Labs India provides notes to verify coverage.
What is the accuracy of the NGS Genetic Test?
The test is highly accurate for detecting mutations in the HYAL1 gene, but it may not identify all genetic variations.
Can this test detect carriers of Mucopolysaccharidosis type 9?
It can detect pathogenic variants, but carrier detection may be limited; genetic counseling is recommended for interpretation.
What should I do if the test results are positive?
Consult a healthcare provider or genetic specialist for management options, treatment planning, and family counseling.
Are there any risks associated with genetic testing?
Risks are minimal, mainly related to blood draw, but there may be psychological impacts; genetic counseling can help address concerns.
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.

Related Tests

Amino Acids Qualitative Urine & Plasma Test

₹3,000

Galactose Quantitative Plasma Test

₹1,872

Galactosemia Panel 3 Test

₹4,563

Galactosemia Panel 1 Test

₹2,867

Canavan Disease Test

₹4,500

Galactose-1-Phosphate Quantitative Blood Test

₹1,989
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.