Test Price
2,800 AED✅ Home Collection Available
SLC19A2 Gene Thiamine-Responsive Megaloblastic Anemia Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
✅ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing.
🚚 Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM.
🧬 Clinical Guidance: Telephonic Post-Test Clinical Guidance with Consultant Medical Genetics Lina Osama Zaki Quteineh (DHA License #9294403) to explain results and next steps.
📋 Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
This precise, DHA-licensed genetic assay provides a definitive molecular diagnosis for thiamine-responsive megaloblastic anemia syndrome, with professional home phlebotomy and post-test consultation ensuring complete peace of mind.
Test Overview & Methodology
Comprehensive Genetic Testing for TRMA Syndrome
This test employs Next-Generation Sequencing (NGS) to detect pathogenic variants in the SLC19A2 gene, the definitive molecular cause of thiamine-responsive megaloblastic anemia syndrome (TRMA). It is the only DHA-licensed, ISO-certified NGS assay in the UAE that combines full gene coverage with a 3-week turnaround, empowering hematologists and clinical geneticists to make timely treatment decisions.
| Feature | Our Test (DNA Labs UAE) | Closest Alternative (Targeted Genotyping) |
|---|---|---|
| Method | NGS – full SLC19A2 gene sequencing with CNV analysis | Sanger sequencing of pre-selected variants only |
| Diagnostic Precision | 99.9% sensitivity (ISO-validated platform) | Misses novel or deep intronic mutations |
| Speed | 3–4 weeks | 2 weeks (limited scope) |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I see the transformative power of molecular confirmation for families navigating rare anemias. This NGS assay provides definitive evidence of SLC19A2 involvement, enabling immediate high-dose thiamine therapy that can reverse hematological abnormalities and preserve hearing. Always correlate genetic findings with the full clinical picture before initiating treatment.”
– Lina Osama Zaki Quteineh (DHA Registration ID: 9294403), Consultant Medical Genetics
🩺 Medication Advisory
Do not discontinue any prescribed medication, including thiamine or supportive therapy, without consulting your physician. This genetic test informs the diagnostic pathway but does not replace ongoing medical supervision or clinical judgment.
⛔ Safety Exclusion Criteria & ER Red Flags
- Sample collection from minors requires a DHA-approved consent form as per Federal Decree-Law No. 4 of 2016 on Medical Liability. Home phlebotomy for children under 12 must be supervised by a pediatric nurse.
- If the patient presents with severe anemia (Hb < 5 g/dL), hemodynamic instability, or acute neurological symptoms, proceed directly to the nearest ER – genetic testing is an outpatient diagnostic step and not a substitute for emergency care.
- This test is not intended for prenatal diagnosis without explicit genetic counseling and DHA pre-certification.
Patient FAQ & Clinical Guidance
1. What is the clinical utility of the SLC19A2 gene test?
This gold-standard genetic test confirms thiamine-responsive megaloblastic anemia syndrome at the DNA level, differentiating it from other megaloblastic anemias and enabling immediate, life-long oral thiamine therapy that can reverse hematological abnormalities and prevent irreversible deafness.
2. How is the sample collected and what is the turnaround time?
A DHA-licensed phlebotomist visits your home between 8 AM and 11 PM; a single blood draw is sufficient. The sample travels in a temperature-controlled cold-chain container to our ISO-certified lab, and full NGS analysis takes 3 to 4 weeks, with results released through a secure patient portal.
3. What does a positive result mean and what follow-up is recommended?
A positive (pathogenic variant) finding confirms the diagnosis; your physician will start high-dose thiamine (vitamin B1) immediately, often leading to a dramatic clinical improvement. We provide a post-test telephonic consultation with Consultant Medical Genetics Lina Osama Zaki Quteineh to explain results, and you will receive a personalized pedigree chart for family screening.
UAE Regulatory & Data Privacy Adherence
🔒 Data Protection & Compliance Framework
DNA Labs UAE operates under the strictest UAE data protection mandates. All 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. Your genomic information is encrypted, access-controlled, and never shared without explicit patient consent. All clinical testing procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability ensuring patient safety and informed consent at every step.
Clinical & Logistical Metadata
| Test Name | SLC19A2 Gene Thiamine-Responsive Megaloblastic Anemia Syndrome Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube) or FTA card |
| Methodology Used | Next-Generation Sequencing (NGS) with CNV analysis |
| ICD-10-CM Code | D53.1 |
| LOINC Code | 94810-3 |
| 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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All reports reviewed by DHA-Certified physicians