IDUA Gene Mucopolysaccharidosis type 1H NGS Genetic Test
Short Name: MPS 1H NGS Test
Also known as: MPS 1H Genetic Test, Hurler Syndrome Genetic Test, IDUA Mutation Analysis
IDUA Gene Mucopolysaccharidosis type 1H 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 from sample receipt. 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 detect mutations in the IDUA gene for accurate diagnosis of Mucopolysaccharidosis type 1H, enabling early management and genetic counseling.
- Test Code
- 2185
- 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
- NGS (Next-Generation Sequencing)
Sample Collection
Complete genetic counseling and provide detailed clinical history and family pedigree. No fasting required.
Method: Venipuncture for blood, or FTA card spot collection
Laboratory Analysis
Blood sample collected via venipuncture using sterile technique, or FTA card spot collection.
Report Delivery
Sample is labeled, stored at ambient temperature, and transported to the lab for NGS processing.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the IDUA gene for accurate diagnosis of Mucopolysaccharidosis type 1H, enabling early management and genetic counseling.
How to Prepare
- No fasting is required prior to sample collection
- Bring a valid ID and doctor's prescription
- For home collection, ensure a clean and quiet environment
- Follow instructions for FTA card collection if applicable
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early and accurate diagnosis through NGS testing is critical for timely intervention in MPS 1H, which can improve quality of life and outcomes. Genetic counseling is recommended for all families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or unlabeled samples
- Contaminated or degraded DNA
Understanding Your Results
No pathogenic variants detected
Normal finding; does not rule out other causes of symptoms. Consider further testing if clinically indicated.
Pathogenic variant(s) identified
Confirms diagnosis of MPS 1H or carrier status. Genetic counseling is essential for management and family planning.
Variant of uncertain significance
Requires additional testing, family studies, or clinical follow-up for clarification.
Consult a geneticist or metabolic specialist if test results are abnormal, symptoms persist, or for guidance on treatment and management options.
Limitations
- ⚠May not detect all possible genetic variants, including large deletions or duplications
- ⚠Requires clinical correlation and genetic counseling for interpretation
- ⚠Turnaround time is 3-4 weeks, which may delay urgent diagnosis
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Rare risk of infection
- ●Emotional impact of results; genetic counseling is provided to mitigate
Interfering Factors
- ●Degraded or low-quality DNA samples
- ●Contamination during sample collection or processing
- ●Recent blood transfusions affecting DNA integrity
Compare With Similar Tests
| Test | IDUA Gene Mucopolysaccharidosis type 1H NGS Genetic Test | Alpha-L-iduronidase Enzyme Assay | Glycosaminoglycan (GAG) Urine Test | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | IDUA Gene Mucopolysaccharidosis type 1H NGS Genetic Test |
Frequently Asked Questions
What is Mucopolysaccharidosis type 1H (MPS 1H)?
How is MPS 1H diagnosed?
What is NGS genetic testing for MPS 1H?
What is the cost of the IDUA Gene NGS Genetic Test?
Is home sample collection available for this test?
How long does it take to receive the test results?
What do abnormal test results indicate?
Can this test be used for prenatal diagnosis?
What are the common symptoms of MPS 1H?
Is genetic counseling required before this test?
How accurate is NGS testing for detecting IDUA mutations?
What should I do if I have a family history of MPS 1H?
Related Tests
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.