Test Price
2,800 AED✅ Home Collection Available
SLC17A5 Gene Analysis (Sialuria Finnish Type) – NGS Genetic Test in UAE
Executive Summary & Core Metrics
Core Metrics
- Precision: 99.9% diagnostic sensitivity via ISO 9001:2015 certified processing, covering all coding exons and exon–intron boundaries of SLC17A5.
- Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Post-test telephone consultation for result interpretation by a board-certified consultant medical geneticist.
- Insurance: Direct verification of coverage via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The SLC17A5 gene NGS test sequences all exons and exon–intron boundaries to detect pathogenic variants causing free sialic acid storage disease (Salla disease, Finnish-type sialuria), a severe neurodevelopmental disorder. This test serves diagnostic, carrier screening, and family planning purposes with unparalleled molecular resolution. Next Generation Sequencing (NGS) with in‑silico CNV calling provides 99.9% coverage of all coding regions, rare variants, and copy number variations, far exceeding the detection rate of targeted genotyping methods which miss more than 30% of mutations.
| Aspect | Our Test – NGS Full Gene Sequencing | Alternative – Targeted Genotyping |
|---|---|---|
| Precision | 99.9% coverage of all coding regions, rare variants, CNVs | Only known founder variants (e.g., p.Arg39Cys), misses over 30% of mutations |
| Methodology | NGS with in‑silico CNV calling | Sanger sequencing for single or few nucleotides |
| Turnaround Time | 3–4 Weeks | 2–3 Weeks |
| Clinical Guidance | Comprehensive variant report plus telephonic post‑test interpretation by a consultant medical geneticist | Often limited to positive/negative call without detailed counseling |
Physician Insight & Safety Protocols
“Families facing the uncertainty of developmental regression and hypotonia in a loved one require definitive molecular clarity. This genetic test for SLC17A5 provides that resolution, enabling tailored management, palliative support, and informed genetic counseling. A negative result does not exclude other neurometabolic disorders, so ongoing multidisciplinary evaluation remains essential.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Pre-Test Advisory
⚠️ Important Pre-Test Guidance
Do not discontinue any prescribed medication prior to this test without consulting your treating physician. Genetic results must be integrated with clinical findings and are not a standalone diagnostic tool. A telephonic pre-test consultation with our consultant medical geneticist is recommended to confirm clinical indication and consent.
🚨 Emergency Red Flags — Seek immediate medical attention if you experience acute loss of consciousness, intractable seizures, respiratory distress, or sudden neurological deterioration.
Exclusion Criteria & Safety Red Flags
- Unable to provide valid informed consent (mandatory per Federal Decree-Law No. 4 of 2016 on Medical Liability for minors and adults lacking capacity).
- Whole blood sample collected within 4 weeks of a packed red blood cell transfusion.
- Inadequate sample volume or degraded DNA on FTA card.
Patient FAQ & Clinical Guidance
1. What conditions does the SLC17A5 gene test detect?
This test identifies pathogenic variants in the SLC17A5 gene responsible for free sialic acid storage disorders, including the severe infantile form and the milder Finnish-type Salla disease. It is used for diagnostic confirmation, carrier screening, and family planning.
2. How is the sample collected and is home collection available?
A certified phlebotomist can perform a VIP home blood draw or collect a simple finger‑prick onto an FTA card, with cold‑chain transport in accordance with ISO 9001:2015 standards. Home phlebotomy is available daily from 8 AM to 11 PM.
3. Will my insurance cover this genetic test?
We offer direct insurance verification via WhatsApp at +971 54 548 8731; eligibility depends on your policy’s genetic testing benefits and clinical necessity as determined by your referring physician.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License No. 1143 and adheres to all applicable UAE federal data protection and health information security regulations. Your genetic data is processed and stored in 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. Clinical testing safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
All result reports are transmitted via encrypted channels, and identifiable genetic information is never shared with third parties without your explicit written consent. You retain the right to access, correct, or request deletion of your data in accordance with PDPL provisions.
Clinical & Logistical Metadata
| Test Name | SLC17A5 Gene Analysis (Sialuria Finnish Type) – NGS Full Gene Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Finger‑Prick FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) with in‑silico CNV calling |
| ICD-10-CM Code | E77.8 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. DNA Labs UAE. |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians