IDUA Gene Scheie syndrome NGS Genetic Test
Short Name: IDUA Scheie Syndrome NGS Test
IDUA Gene Scheie syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 this NGS genetic test is to detect mutations in the IDUA gene associated with Scheie syndrome, enabling accurate diagnosis, guiding management strategies, and providing information for genetic counseling and family planning.
- Test Code
- 2240
- 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 Technology
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Scheie syndrome are required before sample collection.
Laboratory Analysis
Standard blood draw or collection of extracted DNA/FTA card sample following aseptic techniques.
Report Delivery
Sample is processed for NGS analysis; patient can resume normal activities immediately.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect mutations in the IDUA gene associated with Scheie syndrome, enabling accurate diagnosis, guiding management strategies, and providing information for genetic counseling and family planning.
How to Prepare
- For blood sample: Collect 3-5 ml venous blood in EDTA tube.
- For extracted DNA: Ensure DNA is properly extracted and stored.
- For FTA card: Apply one drop of blood and air-dry as per instructions.
- Label samples correctly with patient details.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis through NGS testing can guide effective symptom management and family counseling for Scheie syndrome."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Positive
Pathogenic variants detected in IDUA gene, confirming diagnosis of Scheie syndrome. Clinical correlation recommended.
Negative
No pathogenic variants detected. Consider other metabolic disorders or repeat testing if clinical suspicion remains high.
Variant of Uncertain Significance (VUS)
Genetic variant identified but not yet classified; clinical follow-up and family studies may be needed.
Consult a doctor if symptoms such as joint pain, vision issues, heart problems, or developmental delays are present, especially with a family history of metabolic disorders.
Risks & Considerations
- ●Minor bruising or discomfort at the needle site for blood collection
- ●Minimal risk of infection with proper aseptic technique
Frequently Asked Questions
What is IDUA Gene Scheie Syndrome?
What are the common symptoms of Scheie syndrome?
How is Scheie syndrome diagnosed?
What is the cost of the IDUA Gene Scheie Syndrome NGS Genetic Test in India?
Is home sample collection available for this test?
How long does it take to get the test results?
What sample types are accepted for this genetic test?
Is fasting required before the test?
What should I do if the test result is positive?
Can this test be used for prenatal diagnosis?
Is the test covered by insurance schemes like PMJAY or CGHS?
Why choose DNA Labs India for this genetic 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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