Test Price
2,800 AED✅ Home Collection Available
SGSH Gene Mucopolysaccharidosis Type IIIA (Sanfilippo A Syndrome) Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing (Cert: INT/EGQ/2509DA/3139).
✓ Premium Logistics: VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across all Emirates.
✓ Clinical Guidance: Telephonic post-test clinical interpretation by a DHA-licensed Consultant Medical Geneticist included with every result.
✓ Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
This advanced genetic analysis employs next-generation sequencing (NGS) to detect pathogenic variants in the SGSH gene associated with Mucopolysaccharidosis Type IIIA (Sanfilippo A Syndrome), a rare autosomal recessive lysosomal storage disorder. The test is performed under ISO 9001:2015 standards and DHA oversight, with results available within 3 to 4 weeks and a mandatory post-test genetic counseling session to guide clinical management and family planning.
Test Overview & Methodology
The SGSH Gene NGS Test performs high-resolution sequencing of the N-sulfoglucosamine sulfohydrolase (SGSH) gene, the causative locus for Mucopolysaccharidosis Type IIIA (Sanfilippo A Syndrome). This test is indicated for pediatric patients presenting with progressive neurodegeneration, behavioral disturbances, and coarse facial features, as well as for carrier screening and family planning. The assay detects missense, nonsense, splice-site, indel, and copy-number variants at single-nucleotide resolution, with all pathogenic calls confirmed by Sanger sequencing.
| Feature | Our Test (NGS – SGSH Full Gene) | Closest Alternative (Enzyme Assay) |
|---|---|---|
| Diagnostic Precision | Single-nucleotide resolution; detects missense, nonsense, splice-site, indel, and copy-number variants | Measures heparan N-sulfatase enzyme activity only; cannot identify specific mutation type |
| Methodology | Next Generation Sequencing (NGS) with Sanger confirmation of all pathogenic calls | Fluorometric enzyme activity assay in leukocytes or cultured fibroblasts |
| Turnaround Time | 3 to 4 Weeks | 4 to 8 Weeks (often requires skin biopsy for fibroblast culture) |
| Carrier Screening Utility | ✓ Definitive carrier status determination | Limited; reduced enzyme activity may overlap with normal range |
| Sample Requirement | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | Fresh whole blood or skin biopsy (invasive) |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh
Consultant Medical Genetics | DHA Registration ID: 9294403
In my clinical experience managing families affected by Mucopolysaccharidosis Type IIIA across the UAE, this NGS-based SGSH gene test delivers definitive molecular confirmation that is critical for accurate genetic counseling. However, results must always be contextualized within the full clinical picture. A negative NGS result does not completely exclude MPS IIIA if strong clinical suspicion persists; additional biochemical testing or whole-exome sequencing may be warranted. Importantly, patients and families should never alter or stop any prescribed therapy without explicit guidance from the treating physician, as abrupt changes can precipitate serious metabolic complications.
Advisory & Safety Considerations
⚠ Exclusion Criteria — Do Not Proceed with Sample Collection if Any Apply
- Active febrile illness or systemic infection (postpone until fully recovered for at least 7 days)
- Current anticoagulant therapy (e.g., Warfarin, Heparin, Enoxaparin) without prior physician clearance
- Severe thrombocytopenia (platelet count below 50,000/µL) or active bleeding disorder
- Known hypersensitivity to phlebotomy site antiseptics (chlorhexidine or povidone-iodine)
- Patient is a minor (under 18 years) and informed consent from a legal guardian has not been obtained — mandatory under Federal Decree-Law No. 4 of 2016 on Medical Liability
Emergency Red Flags — Seek Immediate Medical Attention
- Sudden loss of developmental milestones (e.g., loss of speech, loss of ambulation) in a child under evaluation
- Acute behavioral crisis with self-injurious behavior or severe aggression
- Signs of raised intracranial pressure: early morning headaches, projectile vomiting, sunsetting eyes
- Seizure activity or status epilepticus
- Respiratory distress or stridor suggestive of airway obstruction
Patient FAQ & Clinical Guidance
1. What is the SGSH gene test and why is it performed for suspected Sanfilippo A syndrome?
The SGSH gene NGS test sequences the entire coding region of the N-sulfoglucosamine sulfohydrolase gene to identify pathogenic mutations responsible for Mucopolysaccharidosis Type IIIA. It provides definitive molecular confirmation when clinical symptoms such as progressive neurodegeneration, sleep disturbances, and coarse facial features raise suspicion. This test also facilitates accurate carrier screening for at-risk family members and enables genotype-phenotype correlation that may guide emerging targeted therapies currently in clinical trials.
2. How should I prepare for this genetic test, and what sample types are accepted?
Preparation requires a mandatory pre-test genetic counseling session to construct a detailed family pedigree, completion of informed consent documentation, and provision of a complete clinical history from your referring physician. Accepted sample types include whole blood collected in EDTA tubes, previously extracted DNA at appropriate concentration, or a single drop of blood dried on an FTA card for convenient home collection. No fasting or medication adjustments are required prior to sample collection unless specifically directed by your physician.
3. What do my results mean, and what are the next steps after receiving a positive result?
A positive result indicates the identification of one or two pathogenic SGSH variants confirming a diagnosis of Mucopolysaccharidosis Type IIIA or carrier status respectively. Your DHA-licensed Consultant Medical Geneticist will provide a comprehensive post-test consultation to explain the molecular findings, discuss implications for at-risk family members, and coordinate with your treating pediatrician or metabolic specialist to establish a multidisciplinary management plan encompassing developmental support, seizure control, and nutritional optimization. Referral to specialized centers offering clinical trials for emerging therapies such as intrathecal enzyme replacement or gene therapy may also be discussed.
4. Is home sample collection available, and how does the logistics process work?
Yes, VIP Mobile Phlebotomy with temperature-controlled cold-chain transport is available daily from 8:00 AM to 11:00 PM across all Emirates. A DHA-licensed phlebotomist arrives at your location equipped with full cold-chain transport equipment. For insurance verification and booking, send your insurance card image via WhatsApp to +971 54 548 8731 for direct billing verification before scheduling your appointment.
UAE Regulatory & Data Privacy Adherence
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genomic and personal health data is processed, stored, and transmitted in full compliance with UAE data privacy regulations. Patient data is never shared with third parties without explicit written consent.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: This facility adheres to all provisions governing the secure handling of electronic health records and telemedicine communications.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Genetic testing of minors requires documented informed consent from a legal guardian. Pre-test genetic counseling is mandatory for all pediatric patients.
- ISO 9001:2015 Certification: Facility certification number INT/EGQ/2509DA/3139, ensuring internationally recognized quality management standards across all laboratory processes.
- DHA Facility License: 1143 — Licensed and audited by the Dubai Health Authority.
Clinical & Logistical Metadata
| Test Name | SGSH Gene Mucopolysaccharidosis Type IIIA (Sanfilippo A Syndrome) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | E76.22 |
| LOINC Code | 21631-1 |
| DHA Facility License & Laboratory Address | DHA License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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