Test Price
2,800 AED✅ Home Collection Available
IDUA Gene (Hurler‑Scheie Syndrome) Genetic Test – NGS Full Gene Sequencing in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity for point mutations, small indels, and splice variants via ISO‑accredited Illumina NovaSeq™ NGS platform.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Complimentary pre‑test genetic counseling session plus post‑test telephonic interpretation by a Consultant Medical Genetics specialist.
- Insurance & Billing: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced diagnostic assay sequences the entire coding region and splice‑site boundaries of the IDUA gene using next‑generation sequencing (NGS) at 100× mean depth. It detects pathogenic variants responsible for Hurler‑Scheie syndrome, the intermediate phenotype of Mucopolysaccharidosis type I (MPS I). The test is indicated for confirmatory diagnosis in symptomatic individuals, carrier screening in at‑risk family members, and pre‑conception risk assessment. A negative result does not fully rule out MPS I; deletion/duplication analysis and urine glycosaminoglycan quantification remain complementary investigations.
Who orders this test: Clinical Geneticists, Pediatric Metabolic Disease Consultants, and Genetic Counselors initiate the test after a comprehensive clinical evaluation including dysostosis multiplex, corneal clouding, organomegaly, or a positive family history of MPS I.
| Feature | Our Test (IDUA NGS) | Closest Alternative (α‑L‑Iduronidase Enzyme Assay) |
|---|---|---|
| Precision | 99.9% sensitivity for point mutations, small indels, and splice variants | ~80% sensitivity; cannot detect all pathogenic variants or carrier status |
| Method | Full‑gene Next‑Generation Sequencing (Illumina NovaSeq™, 100× depth) | Fluorometric enzyme activity assay on dried blood spots or leukocytes |
| Turnaround | 3 – 4 Weeks | 1 – 2 Weeks |
| Diagnostic Scope | Identifies carrier status, distinguishes MPS I subtypes (Hurler, Hurler‑Scheie, Scheie), and guides family screening | Confirms enzyme deficiency only; cannot differentiate MPS I subtypes |
Physician Insight & Safety Protocols
“Molecular confirmation of MPS I through IDUA sequencing is the cornerstone of precision management, yet it must be interpreted alongside clinical phenotype and enzyme activity. A negative NGS result in a patient with strong clinical suspicion should prompt reflex to deletion/duplication analysis and biochemical testing. Comprehensive metabolic workup remains the gold standard — no single genetic test replaces a holistic evaluation.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication & Treatment Advisory
Do not discontinue or adjust any prescribed therapy, including enzyme replacement therapy (laronidase) or hematopoietic stem cell transplant‑related medications, without explicit instruction from your supervising physician. Abrupt cessation may accelerate disease progression or precipitate complications.
Patient Safety: Exclusion Criteria & Emergency Red Flags
Exclusion Criteria (Do Not Proceed with Home Collection)
- Acute febrile illness or systemic infection
- Severe anemia or bleeding diathesis
- Inability to provide informed consent (patient or legal guardian)
- Current high‑risk pregnancy without prior genetic counseling
- Venous access too poor for 3 mL whole blood collection
Emergency Red Flags – Direct to ER Immediately
- Sudden onset of stridor, cyanosis, or severe respiratory distress
- Acute cardiac decompensation or arrhythmia
- New‑onset seizures or loss of consciousness
- Severe abdominal distension with signs of organ rupture
- Acute psychiatric crisis or suicidal ideation
Patient FAQ & Clinical Guidance
1. What is the IDUA gene NGS test and who should consider it?
The IDUA NGS test sequences the entire IDUA gene to identify pathogenic mutations causing Hurler‑Scheie syndrome (MPS I). It is indicated for individuals with clinical features of MPS I — such as dysostosis multiplex, corneal clouding, cardiac valve disease, or organomegaly — as well as for carrier screening in families with a known history of the disorder.
2. How is the sample collected, and is home phlebotomy available?
The test requires 3 mL of peripheral whole blood collected in an EDTA tube. Our VIP Mobile Phlebotomy service (available 8 AM – 11 PM daily) sends a DHA‑licensed phlebotomist to your home. The specimen is transported under continuous temperature‑controlled cold chain to our ISO 9001:2015 accredited laboratory.
3. What is the turnaround time, and does the price include genetic counseling?
Results are reported within 3 to 4 weeks (21–28 business days). The 2,800 AED package includes a mandatory pre‑test genetic counseling session and a post‑result telephonic interpretation delivered by a Consultant Medical Genetics specialist.
4. Can this test be performed during pregnancy?
Prenatal testing for MPS I is available but requires prior genetic counseling and a referral from a Clinical Geneticist. Home collection is not offered in pregnancy; sampling is coordinated through a DHA‑licensed hospital. Please contact our care team for guidance.
5. What does a negative result mean?
A negative NGS result significantly reduces the likelihood of a pathogenic IDUA mutation, but it does not completely exclude MPS I. If clinical suspicion remains high, your physician may recommend deletion/duplication analysis, urine glycosaminoglycan (GAG) quantification, and enzyme assay to rule out other MPS disorders.
UAE Regulatory & Data Privacy Adherence
This service operates in full compliance with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. All genetic data is stored on UAE‑sovereign cloud servers, access is restricted to authorized personnel, and explicit consent is obtained prior to sample collection and processing. Clinical safety and patient consent procedures adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | IDUA Gene (Hurler‑Scheie Syndrome) Genetic Test – NGS Full Gene Sequencing |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks (21–28 Business Days) |
| Sample Type / Matrix | Whole Blood (Peripheral) – 3 mL in EDTA tube |
| Methodology Used | Next‑Generation Sequencing (NGS) – Illumina NovaSeq™ 6000, 100× mean depth |
| ICD-10-CM Code | E76.03 (Mucopolysaccharidosis type I, Hurler‑Scheie syndrome) |
| LOINC Code | 92846-6 (IDUA gene full mutation analysis by NGS) |
| DHA Facility License & Address | License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
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