Test Price
2,800 AED✅ Home Collection Available
HYAL1 Gene Mucopolysaccharidosis Type 9 (MPS IX) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Executive Summary
- Clinical Accuracy: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Laboratory Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Hospital‑Grade Home Collection (8 AM‑11 PM) with ISO‑Certified Cold‑Chain Transport & VIP Mobile Phlebotomy.
- Post‑Test Guidance: Mandatory Telephonic Clinical Interpretation with a Specialist to explain result implications.
- Insurance Verification: Direct Billing Pre‑Authorization via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This Next‑Generation Sequencing (NGS) test analyses the entire HYAL1 gene to detect pathogenic variants causing Mucopolysaccharidosis Type 9 (MPS IX), a rare lysosomal storage disorder. The report includes actionable insights for confirming a clinical diagnosis, guiding enzyme replacement therapy eligibility, and family planning.
| Feature | Our HYAL1 NGS Test | Closest Alternative: Enzymatic Assay |
|---|---|---|
| Methodology | NGS Sequencing (Full Gene Coverage) | Fluorimetric Enzyme Activity |
| Diagnostic Precision | >99.9% Sensitivity / >99.9% Specificity | ~85–90% Sensitivity; May Miss Mosaicism |
| Turnaround Time | 3–4 Weeks (Confirmed Variant Analysis) | 2–3 Weeks (Preliminary Screen) |
| Sample Type | Whole Blood, Extracted DNA, or One Drop on FTA Card | Leukocytes or Cultured Fibroblasts |
| Clinical Utility | Confirms Molecular Diagnosis; Carrier & Prenatal Testing | Supports Biochemical Diagnosis; Requires Follow‑up Genetic Test |
Physician Insight & Safety Protocols
“As a consultant in medical genetics, I emphasise that this test provides the molecular confirmation essential for prognostication and treatment planning. However, a negative result does not exclude MPS IX if the phenotype is compelling—further enzymatic or whole‑genome studies may be warranted. Please use this result in the context of your patient’s full clinical picture and never as a standalone diagnostic.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Safety Advisory
- Ensure informed consent is obtained as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Inform the laboratory of any anticoagulant therapy or bleeding disorders prior to sample collection.
- Do not discontinue prescribed medication without consulting your doctor.
Exclusion Criteria
- Acute metabolic crisis or life‑threatening decompensation requiring immediate hospitalisation.
- Known severe coagulopathy or platelet count <30,000/µL precluding safe venipuncture.
- Inability to obtain informed consent from a legally authorised person.
Emergency Red Flags – Seek Immediate Medical Attention: Sudden onset of severe vomiting, dehydration, or altered consciousness; progressive respiratory distress or stridor; unexplained profound lethargy or seizure‑like activity.
Patient FAQ & Clinical Guidance
1. What exactly does the HYAL1 NGS test detect, and why is it ordered?
This test sequences the entire HYAL1 gene to identify disease‑causing mutations responsible for Mucopolysaccharidosis Type 9, confirming a clinical suspicion or guiding family screening.
2. How is the sample collected, and do you offer home collection?
A simple blood draw, one drop on an FTA card, or previously extracted DNA can be used. Our VIP mobile phlebotomy service visits your home between 8 AM and 11 PM daily.
3. When will I receive my results, and what should I do afterward?
Results are available in 3 to 4 weeks and include a mandatory telephonic consultation with a clinical specialist to interpret the findings and plan next steps.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection
This genetic test and all associated data handling comply 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. The laboratory is DHA‑licensed under facility number 1143 and adheres to strict confidentiality and security standards.
Clinical & Logistical Metadata
| Test Name | HYAL1 Gene Mucopolysaccharidosis Type 9 (MPS IX) NGS Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or FTA Card (Dried Blood Spot) |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full Gene Coverage |
| ICD-10-CM Code | E76.22 |
| LOINC Code | 94027-8 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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