IDUA Gene Hurler syndrome NGS Genetic Test
Short Name: Hurler Syndrome Genetic Test
Also known as: IDUA Gene Mutation Test, Hurler Syndrome DNA Test
IDUA Gene Hurler syndrome 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the IDUA Gene NGS Genetic Test is to identify mutations in the IDUA gene associated with Hurler Syndrome. This aids in confirming diagnosis, assessing carrier status, and guiding treatment decisions.
- Test Code
- 2072
- 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)
Sample Collection
No special preparation is required. Genetic counselling is recommended prior to testing.
Method: Venipuncture for blood, or saliva/buccal swab for DNA
Laboratory Analysis
For blood samples, a venipuncture will be performed; for saliva samples, a buccal swab will be collected.
Report Delivery
Apply pressure to the puncture site for blood draw. Store samples as instructed.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the IDUA Gene NGS Genetic Test is to identify mutations in the IDUA gene associated with Hurler Syndrome. This aids in confirming diagnosis, assessing carrier status, and guiding treatment decisions.
How to Prepare
- Use sterile equipment for sample collection
- For blood samples, collect in EDTA tube
- For saliva samples, follow kit instructions for buccal swab
- Label samples accurately with patient details
- Store at ambient room temperature unless specified otherwise
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis of Hurler Syndrome through genetic testing can significantly improve patient outcomes by enabling timely intervention with treatments like enzyme replacement therapy."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed or clotted blood sample
- Improperly labeled or contaminated samples
Understanding Your Results
Positive for pathogenic mutation
Confirms diagnosis of Hurler Syndrome or carrier status, requiring further clinical evaluation and treatment planning
Negative for pathogenic mutation
No mutations detected, but clinical correlation is advised if symptoms persist
Variant of uncertain significance (VUS)
Genetic variant identified but clinical significance is unknown; requires monitoring and genetic counselling
Carrier status identified
Individual carries one mutated copy of IDUA gene, with implications for family planning
Consult a healthcare provider if you or your child exhibits symptoms of Hurler Syndrome, such as developmental delays, coarse facial features, or organ enlargement, or for genetic counselling if there is a family history.
Limitations
- ⚠May not detect all possible mutations in the IDUA gene
- ⚠Requires genetic counselling for proper interpretation
- ⚠Cannot determine disease severity or progression solely from genetic results
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or discomfort
- ●Psychological impact from genetic results, necessitating counselling
- ●No significant medical risks from saliva collection
Interfering Factors
- ●Sample contamination or degradation
- ●Insufficient DNA quality or quantity
- ●Recent blood transfusions affecting DNA analysis
Compare With Similar Tests
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Frequently Asked Questions
What is Hurler Syndrome?
How is Hurler Syndrome inherited?
What does the IDUA Gene NGS Genetic Test detect?
What is the cost of the test?
Is home collection available for this test?
How long does it take to receive results?
What are the symptoms of Hurler Syndrome?
Can this test detect carriers of Hurler Syndrome?
Is genetic counselling required before testing?
What treatment options are available after diagnosis?
Is the test covered by insurance schemes like PMJAY?
What sample types are accepted for the test?
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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.
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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