Test Price
2,800 AED✅ Home Collection Available
SLC19A2 Gene Thiamine-Responsive Megaloblastic Anemia Syndrome Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين SLC19A2 لمتلازمة فقر الدم الضخم الأروماتي المستجيب للثيامين في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
✅ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing.
🚚 Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold‑Chain Home Collection. VIP Mobile Phlebotomy (8 AM – 11 PM daily).
🧬 Clinical Guidance: Telephonic Post‑Test Clinical Guidance with a DHA‑licensed Medical Geneticist to explain results and next steps.
📋 Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
يُوفر هذا التحليل الجيني الدقيق والمعتمد من هيئة الصحة بدبي لعام 2026 تشخيصًا نهائيًا لمتلازمة فقر الدم الضخم الأروماتي المستجيب للثيامين، مع خدمة سحب منزلي محترفة واستشارة ما بعد الفحص لضمان راحة البال التامة.
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‑endorsed, 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 (Pure Lab 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 Protocol
“As a clinician, I understand that a genetic test result can bring both clarity and anxiety. This NGS assay allows us to confirm TRMA at the molecular level, enabling immediate high‑dose thiamine therapy that can reverse anemia and prevent deafness. Please remember, this test is a tool – your comprehensive clinical picture always guides the final management.”
– Dr. PRABHAKAR REDDY (DHA License #61713011), Consultant Medical Geneticist
🩺 Medication Warning: Do not discontinue any prescribed medication (including thiamine or supportive therapy) without consulting your physician. This test informs, but does not replace, medical judgment.
⛔ Safety Exclusion Criteria & ER Red Flags
- Sample collection from minors requires a DHA‑approved consent form as per UAE Clinical Data Sharing Law (2026) and Federal Decree‑Law No. 41 of 2024 on Medical Liability (Art. 87). 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
Q: What is the clinical utility of the SLC19A2 gene test?
يُعد هذا التحليل الجيني المرجعي الذهبي لتشخيص متلازمة فقر الدم الضخم الأروماتي المستجيب للثيامين عند المرضى الذين يعانون من فقر الدم، السكري، وفقدان السمع. This gold‑standard genetic test confirms TRMA 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.
Q: How is the sample collected and what is the turnaround time?
يتم جمع العينة عبر سحب دم بسيط أو بطاقة FTA في المنزل بواسطة ممرض معتمد، وتُرسل إلى المختبر في حاوية مبردة. A DHA‑licensed phlebotomist visits your home between 8 AM and 11 PM; a single blood draw (or a drop on an FTA card) is sufficient. The sample travels in a 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.
Q: What does a positive result mean and what follow‑up is recommended?
تعني النتيجة الإيجابية وجود طفرة ممرضة في جين SLC19A2، مما يؤكد المتلازمة ويستوجب بدء علاج الثيامين الفموي الفوري. 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‑ telephonic consultation with our geneticist to explain results, and you will receive a personalized pedigree chart for family screening.
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