IDUA Gene Hurler-Scheie syndrome NGS Genetic Test
Short Name: IDUA Gene NGS Test
Also known as: MPS-IHS, Hurler-Scheie syndrome
IDUA Gene Hurler-Scheie syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) 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
To identify pathogenic mutations in the IDUA gene for confirmatory diagnosis of Hurler-Scheie syndrome, guide clinical management, and facilitate genetic counseling for patients and families.
- Test Code
- 2075
- 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
- NGS (Next Generation Sequencing)
Sample Collection
No specific preparation is required. Inform the healthcare provider about any medications, medical conditions, or previous genetic tests.
Method: Venipuncture for blood; FTA card for capillary blood
Laboratory Analysis
A blood sample will be drawn from a vein in the arm using venipuncture, or a small blood drop will be collected on an FTA card for stable DNA preservation.
Report Delivery
Apply gentle pressure to the puncture site with a cotton ball to prevent bruising. Keep the area clean and avoid strenuous activity with the arm for a few hours.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the IDUA gene for confirmatory diagnosis of Hurler-Scheie syndrome, guide clinical management, and facilitate genetic counseling for patients and families.
How to Prepare
- Use sterile equipment and aseptic technique for blood collection
- Label the sample container correctly with patient details and test information
- Transport the blood sample at ambient temperature (15-30°C) within 24 hours; FTA cards can be stored at room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is essential for confirming Hurler-Scheie syndrome, allowing for timely intervention and genetic counseling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample hemolyzed, clotted, or contaminated
- Insufficient sample volume or incorrect sample type
- Missing or incorrect labeling of the sample
Understanding Your Results
Positive
Pathogenic mutation(s) detected in the IDUA gene, confirming the diagnosis of Hurler-Scheie syndrome. Genetic counseling is recommended for the patient and family members to discuss management options and inheritance patterns.
Negative
No pathogenic variants detected in the IDUA gene. However, if clinical symptoms persist, additional testing or clinical assessment by a specialist may be necessary.
Consult a genetic specialist or metabolic disorder expert immediately if symptoms suggestive of Hurler-Scheie syndrome are present, or if the test result is positive, to discuss treatment plans and genetic counseling.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or deep intronic variants
- ⚠Requires genetic counseling for accurate interpretation of results
- ⚠Not a substitute for comprehensive clinical evaluation and other diagnostic tests
Risks & Considerations
- ●Minimal risk of bruising, soreness, or infection at the puncture site
- ●Rare allergic reaction to antiseptic or adhesive materials
Interfering Factors
- ●Sample contamination during collection or transport
- ●DNA degradation due to improper storage
- ●Use of incorrect sample type or insufficient volume
Frequently Asked Questions
What is IDUA gene Hurler-Scheie syndrome?
What are the common symptoms of Hurler-Scheie syndrome?
How is Hurler-Scheie syndrome diagnosed?
What does the NGS Genetic Test for IDUA gene involve?
What is the cost of the IDUA Gene NGS Test?
What sample is required for the test?
Is home sample collection available for this test?
How long does it take to get the results?
What does a positive test result mean?
Can this test be used for prenatal diagnosis?
Is genetic counseling provided with the test?
Are there any risks associated with the test?
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