Test Price
2,800 AED✅ Home Collection Available
SLC25A19 Gene (Thiamine Metabolism Dysfunction Syndrome 4, Progressive Polyneuropathy Type) Genetic Test in UAE | 2800 AED | DHA-Licensed Molecular Diagnostics
Executive Summary & Core Metrics
99.9% Diagnostic Sensitivity – ISO 9001:2015 Certified Lab (INT/EGQ/2509DA/3139); Sanger‑confirmed NGS results.
VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection – Available daily from 8 AM to 11 PM for standard peripheral blood draws.
Clinical Guidance – Telephonic post‑test genetic counselling with a DHA‑licensed Consultant Medical Geneticist.
Direct Billing Verification – Confirm Insurance Coverage via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This comprehensive Next‑Generation Sequencing (NGS) test analyses the entire coding region of the SLC25A19 gene to identify pathogenic variants responsible for Thiamine Metabolism Dysfunction Syndrome 4 (progressive polyneuropathy type), a rare inherited neuropathy. The test provides definitive molecular confirmation for suspected hereditary peripheral neuropathy, enabling personalized management and family planning in compliance with UAE genetic testing regulations. All clinically significant variants are confirmed by Sanger sequencing to ensure 99.9% diagnostic accuracy.
| Feature | Our Test – SLC25A19 NGS | Closest Alternative – Single‑Gene Sanger |
|---|---|---|
| Precision | Full‑gene coverage with >50x mean depth; Sanger validation of all variants | Targeted exon sequencing only; may miss deep intronic or copy‑number changes |
| Methodology | Illumina‑based NGS + bioinformatics pipeline conforming to ACMG guidelines | Capillary electrophoresis; manual analysis |
| Turnaround Time | 3–4 Weeks from sample receipt | 4–6 Weeks typically |
| UAE Regulatory Compliance | DHA-licensed lab, ISO 9001, full adherence to PDPL and Federal Law No. 2 of 2019 | Variable; often lacks DHA certification |
Physician Insight & Safety Protocols
“A genetic diagnosis is not merely a laboratory report—it is a guiding map for families facing progressive neuropathy. While this test identifies pathogenic variants in SLC25A19 with exceptional accuracy, the result must always be correlated with a complete neurological evaluation. I urge every patient to maintain their current treatment plan and never discontinue prescribed medication without direct consultation.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403Critical Advisory – Medication & Therapy Continuation
⚠️ Important Clinical Guidance
Do not stop any prescribed medication or alter therapy based on this test result alone. Always discuss findings with your treating physician. Genetic test results provide diagnostic clarity but do not replace ongoing clinical management or emergency care.
Pre‑Test Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Active febrile illness, haemodynamic instability, or inability to provide written informed consent. Genetic testing of minors requires court‑approved parental consent under UAE Federal Law No. 2 of 2019.
- Potential Red Flags: Sudden onset of seizures, acute respiratory distress, or rapid neurological deterioration. If these occur, seek immediate emergency care; do not delay for test collection.
- Sample Integrity: Whole blood must be drawn in EDTA tubes; Dried Blood Spots on FTA cards must be completely air‑dried before packaging. A dedicated genetic counselling session and a three‑generation pedigree chart are mandatory prior to testing, as per DHA guidelines.
Patient FAQ & Clinical Guidance
1. What does the SLC25A19 genetic test detect and who should consider it?
The SLC25A19 NGS test definitively identifies mutations responsible for thiamine metabolism dysfunction syndrome 4 with progressive polyneuropathy, offering a conclusive molecular diagnosis for patients—especially children—presenting with unexplained sensory‑motor neuropathy, ataxia, or episodic encephalopathy. It is indicated when clinical and neurophysiological findings suggest a hereditary metabolic neuropathy, or for carrier screening in families with a known mutation.
2. How is the test performed and when will I receive the results?
A single blood draw, extracted DNA sample, or a dried blood spot on an FTA card is collected by our certified phlebotomist at your home, and using Next‑Generation Sequencing technology, your detailed report is delivered in 3 to 4 weeks. The process includes pre‑test genetic counselling, thorough quality control, and Sanger confirmation of any clinically significant variant before the final report is released.
3. Is genetic counselling required and how is my DNA data protected under UAE law?
Yes, pre‑ and post‑genetic counselling are mandatory under DHA regulations; your DNA data is safeguarded by 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, ensuring it is never shared without explicit consent. All testing is performed in our ISO 9001:2015 accredited facility, with full transparency regarding variant interpretation and incidental findings.
UAE Regulatory & Data Privacy Adherence
Data Protection & Compliance Framework
This genetic test is performed 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 patient genomic data are encrypted, access‑restricted, and processed under strict informed consent protocols. Clinical safety and patient consent procedures adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. Our laboratory holds DHA Facility License No. 1143 and ISO 9001:2015 certification, ensuring that every step from sample collection to reporting meets international standards for quality and confidentiality.
Clinical & Logistical Metadata
| Test Name | SLC25A19 Gene (Thiamine Metabolism Dysfunction Syndrome 4, Progressive Polyneuropathy Type) – NGS Analysis |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks from sample receipt |
| Sample Type / Matrix | Whole blood (EDTA) or Dried Blood Spot (FTA card) |
| Methodology Used | Next‑Generation Sequencing (Illumina) with Sanger confirmation of all clinically significant variants |
| ICD-10-CM Code | E88.89 |
| LOINC Code | 94455-4 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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