Test Price
2,800 AED✅ Home Collection Available
SLC19A3 Gene Encephalopathy Thiamine-Responsive Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
- 99.9% Diagnostic Sensitivity – NGS performed in an ISO 9001:2015 certified facility; every variant confirmed by DHA-approved bioinformatics pipelines.
- VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – Available daily from 8 AM to 11 PM across all Emirates.
- Post-Test Clinical Guidance – A dedicated consultant medical geneticist reviews your results and provides a teleconsultation to explain treatment implications.
- Direct Insurance Billing Verification – WhatsApp your Emirates ID to +971 54 548 8731; we verify coverage within 30 minutes.
Test Overview & Methodology
The SLC19A3 Gene Encephalopathy Thiamine-Responsive Genetic Test screens the entire coding region of the SLC19A3 gene to identify pathogenic variants causing thiamine-transporter-2 deficiency (biotin-thiamine-responsive basal ganglia disease). This single test replaces serial biochemical assays, providing a definitive molecular diagnosis that enables immediate initiation of high-dose thiamine and biotin therapy—often reversing neurological decline.
| Feature | Our Test (NGS Full Gene Sequencing) | Closest Alternative (Targeted Mutation Panel) |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity for all SLC19A3 pathogenic variants, including novel mutations | ~70% sensitivity; detects only pre-specified common mutations |
| Methodology | Next-Generation Sequencing (NGS) with bioinformatics variant interpretation per ACMG guidelines | Allele-specific PCR or single-gene MLPA |
| Turnaround Time | 3–4 weeks | 2–3 weeks (but may require reflex to NGS if negative) |
| Clinical Utility | Confirms diagnosis and guides lifelong high-dose thiamine/biotin therapy; family cascade testing possible | Limited to known familial mutations; less informative for undiagnosed encephalopathy |
Physician Insight & Safety Protocols
“As a consultant in medical genetics, I emphasize that comprehensive gene sequencing provides a definitive molecular answer for patients with suspected biotin-thiamine-responsive basal ganglia disease. Identifying a pathogenic SLC19A3 variant allows clinicians to initiate high-dose thiamine and biotin therapy with confidence, often preventing irreversible neurological deterioration. However, a negative result does not entirely exclude the diagnosis if clinical suspicion is strong—correlation with neuroimaging and metabolic profiles remains essential. Genetic counseling before and after testing ensures families understand recurrence risks and therapeutic options.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
⚠ Medication Advisory
Never discontinue, alter, or initiate any prescribed medication based solely on genetic test results without direct consultation with your treating physician. This molecular diagnostic test provides supportive information for clinical decision-making but does not replace comprehensive neurological evaluation and ongoing medical management.
Patient Safety – Exclusion Criteria & Emergency Red Flags
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Inability to provide informed consent unless a legally authorized representative is present. Absolute contraindication to blood draw (severe clotting disorder, inaccessible veins) – discuss with our phlebotomist; alternative FTA card sample may be arranged.
- Emergency Red Flags: If you experience acute neurological deterioration such as sudden loss of consciousness, recurrent seizures, status epilepticus, or respiratory distress, seek emergency medical care immediately—genetic testing is an elective diagnostic service and cannot replace urgent evaluation.
Patient FAQ & Clinical Guidance
1. What is the SLC19A3 gene test used for?
The SLC19A3 gene test identifies inherited mutations that cause thiamine-responsive encephalopathy, enabling a definitive diagnosis and personalized high-dose thiamine and biotin treatment. This test is essential for patients of any age with unexplained bilateral striatal necrosis, dystonia, or Leigh-like syndrome, because a positive result can direct life-changing metabolic therapy that halts or reverses neurological damage. Genetic counseling is provided before and after testing to help families understand inheritance patterns and recurrence risks.
2. How is the SLC19A3 genetic test performed and what is the turnaround time?
A hospital-grade phlebotomist collects a small blood sample or a dried blood spot on an FTA card from your home; DNA is extracted and sequenced using next-generation sequencing in our DHA-licensed facility, and results are ready in 3 to 4 weeks. The sample is tracked under cold-chain conditions (ISO-certified logistics) to guarantee DNA integrity. You will receive a comprehensive clinical report that includes detected variants, their classification (pathogenic/likely pathogenic/variant of uncertain significance), and therapeutic recommendations aligned with ACMG guidelines.
3. Is genetic counseling required before this test?
Yes, a pre-test genetic counseling session is mandatory to draw a detailed pedigree chart, assess family history, and discuss potential outcomes including variants of uncertain significance, secondary findings, and psychological impact; our DHA-certified genetic counselors provide this session in Arabic or English. This session ensures that you fully understand the implications of the test and that the decision to proceed is informed and voluntary. Post-counseling is also included to explain the results and coordinate care with your neurologist or geneticist.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection
This diagnostic service operates 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 genetic data is encrypted, stored on DHA-approved servers within the UAE, and never shared without explicit patient consent. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Our facility holds ISO 9001:2015 certification and is licensed under DHA Facility License Number 1143. Results are interpreted by DHA-licensed consultant medical geneticists following current ACMG standards.
Clinical & Logistical Metadata
| Test Name | SLC19A3 Gene Encephalopathy Thiamine-Responsive Genetic Test (NGS Full Gene Sequencing) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) with Bioinformatics Variant Interpretation (ACMG Guidelines) |
| ICD-10-CM Code | E53.8 |
| LOINC Code | 77074-2 |
| DHA Facility License & Laboratory Address | DHA License 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians