Test Price
2,800 AED✅ Home Collection Available
HGSNAT Gene Analysis for Mucopolysaccharidosis Type 3C (MPS III‑C) – 2,800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO‑accredited NGS processing and ACMG variant interpretation.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Complimentary post‑test telephonic interpretation by a DHA‑licensed genetic counsellor.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
This test is intended for diagnostic confirmation of Mucopolysaccharidosis type III‑C and carrier screening in at‑risk family members.
Test Overview & Methodology
The HGSNAT gene sequencing test definitively diagnoses Mucopolysaccharidosis type III‑C (Sanfilippo syndrome C) by analysing the entire coding region through Next‑Generation Sequencing. It confirms pathogenic variants, guides clinical management, and enables precise carrier testing for at‑risk family members.
| Feature | Our Test (HGSNAT NGS) | Closest Alternative (Enzyme Assay) |
|---|---|---|
| Precision | 99.9% sensitivity, full‑gene coverage | ~85% sensitivity, limited to enzyme activity |
| Method | NGS (Illumina® platform) + ACMG variant interpretation | Fluorimetric enzyme assay in leukocytes/fibroblasts |
| Speed | Results in 3–4 weeks | Often 6–8 weeks, requires cultured cells |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I emphasize that this genetic test provides definitive molecular diagnosis of MPS III‑C, but results must be interpreted within the full clinical context and complete family history. A positive finding necessitates dedicated genetic counselling to explain prognosis, inheritance, and reproductive options. Always rely on a multidisciplinary metabolic team to translate genomic data into compassionate, actionable care.” — Lina Osama Zaki Quteineh, DHA Registration No. 9294403
Important Advisory
Do not discontinue prescribed medications or supplements without consulting your physician. This genetic test does not alter your current treatment regimen.
Safety & Exclusion Criteria
- Patients with coagulopathies or severe bleeding disorders require a specialist‑supervised blood draw.
- Individuals unable to provide informed consent or lacking a legal guardian (for minors) cannot proceed.
- Emergency Red Flags: If you experience acute mental status change, respiratory distress, or signs of aspiration before sample collection, seek immediate medical attention — this test is not intended for emergency diagnosis.
Patient FAQ & Clinical Guidance
1. What is the purpose of this test and when is it recommended?
This test detects pathogenic variants in the HGSNAT gene to confirm Mucopolysaccharidosis type 3C, a rare inherited metabolic disorder causing neurodegeneration and behavioural issues. It is recommended for children with developmental delay, coarse facies, or a positive family history, and for carrier screening in relatives.
2. How is the sample collected and what preparation is required?
A blood sample, extracted DNA, or FTA card is collected via a painless venipuncture or home collection service by a certified phlebotomist. Fasting is unnecessary, but a mandatory genetic counselling session and a pedigree chart must be completed before testing.
3. What is the turnaround time and how will I receive my results?
Results are delivered in 3 to 4 weeks via a secure encrypted online portal with optional telephonic interpretation by our clinical team. A DHA‑licensed genetic counsellor will contact you to explain the findings and recommend next steps.
UAE Regulatory & Data Privacy Adherence
Your Data is Protected Under UAE Law
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): Ensures your personal data is collected, processed, and stored with strict confidentiality and consent.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Governs the secure handling of electronic health records and telemedicine services.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Upholds patient safety and defines clinical responsibility for diagnostic procedures.
DNA Labs UAE is fully compliant with these regulations and holds DHA Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | HGSNAT Gene Analysis for Mucopolysaccharidosis Type 3C (MPS III‑C) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) with full HGSNAT gene coverage, Illumina platform, ACMG‑compliant variant interpretation. |
| ICD-10-CM Code | E76.22, Z14.8, Z82.79 |
| LOINC Code | 74176-8 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143, DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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