Test Price
2,800 AED✅ Home Collection Available
SLC52A3 Gene (Brown-Vialetto-Van Laere Syndrome Type 1) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل تسلسل الجيل التالي (NGS) لجين SLC52A3 لمتلازمة براون-فياليتو-فان لير من النوع الأول في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
الملخص التنفيذي
يُعد اختبار NGS لجين SLC52A3 تحليلاً جينياً فائق الدقة للكشف عن متلازمة براون-فياليتو-فان لير من النوع الأول، معتمداً من هيئة الصحة بدبي وتحت معايير ISO 9001:2015، بدقة تشخيصية تبلغ 99.9% وإمكانية السحب المنزلي والاستشارة الوراثية.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO‑Accredited NGS Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Paid Hospital‑Grade Home Collection (8 AM‑11 PM) with ISO‑Certified Cold‑Chain Transport and VIP Mobile Phlebotomy.
- Clinical Guidance: Complimentary Telephonic Post‑Test Clinical Correlation and Result Interpretation by a Genetic Counsellor.
- Insurance: Direct Billing Verification & Prior‑Authorization Support via WhatsApp +971 54 548 8731.
Comprehensive SLC52A3 Gene Analysis for BVVL Syndrome Type 1
This advanced Next‑Generation Sequencing (NGS) test examines the entire coding region of the SLC52A3 gene to detect pathogenic variants responsible for Brown‑Vialetto‑Van Laere syndrome type 1 (riboflavin transporter deficiency), a rare neurometabolic disorder. يغطي الاختبار كامل المنطقة المشفّرة للجين SLC52A3 للكشف عن الطفرات المرضية المرتبطة بمتلازمة براون-فياليتو-فان لير. Ideal for patients presenting with sensorineural hearing loss, progressive pontobulbar palsy, and respiratory insufficiency, where early genetic confirmation directly guides high‑dose riboflavin therapy.
| Feature | Our NGS Test (Amet™) | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Precision / Coverage | 99.9% sensitivity; full gene sequencing with deletion/duplication analysis | ~95% sensitivity; only targeted mutation hotspots, misses large rearrangements |
| Methodology | NGS (Illumina® platform) with Sanger validation of all clinically significant variants | Capillary sequencing (Sanger) of limited amplicons |
| Turnaround Time | 3‑4 Weeks | 6‑8 Weeks |
| Clinical Utility | Identifies actionable mutations for riboflavin therapy and familial screening | Incomplete genotyping may delay targeted treatment |
Pre‑Test Requirements & Specimen Logistics
- Accepted Samples: Whole Blood (EDTA), Extracted DNA, or a single drop of blood on an FTA Card.
- Clinical History: Detailed neurological & audiological history is mandatory, including family pedigree.
- Genetic Counselling: A pre‑test genetic counselling session to draw a pedigree chart of affected family members is strongly advised (included in our service).
- Fasting/Avoidances: No dietary or medication restrictions; however, active infection or recent blood transfusion may impact DNA quality – consult our laboratory.
Physician Insight & Safety Protocol
A Clinical Note from Dr. PRABHAKAR REDDY (DHA License: 61713011)
“Your SLC52A3 genetic report is a pivotal piece of a complex diagnostic puzzle; clinical correlation with neuro‑audiological and respiratory findings remains essential before confirming Brown‑Vialetto‑Van Laere syndrome. I urge you to discuss the results with a neurometabolic specialist – the presence of a pathogenic variant is not a standalone diagnosis. Please continue all prescribed medications unless explicitly advised otherwise by your treating physician.”
⚠️ Medication Warning
Do not discontinue any prescribed medication, including riboflavin or anti‑epileptics, without direct consultation with your doctor. Self‑adjustment can trigger acute decompensation.
Patient Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria (Do not proceed with home collection if):
- Active severe coagulopathy (INR > 2.5) or uncontrollable bleeding.
- Severe anaemia (Hb < 7 g/dL) with haemodynamic instability.
- Acute febrile illness or systemic infection requiring hospitalisation.
- Unable to provide informed consent or a valid clinical history.
ER Red Flags – Seek Immediate Medical Attention if any develop:
- Sudden‑onset respiratory distress or stridor.
- Rapid progression of dysphagia with aspiration pneumonia.
- Acute sensorineural hearing deterioration or vision loss.
- Uncontrolled seizures or altered consciousness.
Frequently Asked Questions (UAE Patient Guidance)
What does the SLC52A3 NGS test detect, and why is it ordered?
This advanced genetic test sequences the entire SLC52A3 gene to identify disease‑causing mutations for Brown‑Vialetto‑Van Laere syndrome type 1 with high accuracy. The presence of biallelic pathogenic variants confirms riboflavin transporter deficiency, enabling early riboflavin supplementation that can halt or reverse neurological decline. Genetic counselling is provided before and after the test.
يقوم اختبار تسلسل الجين SLC52A3 بتحديد الطفرات المرضية المسبّبة لمتلازمة براون-فياليتو-فان لير من النوع الأول، مما يسمح ببدء العلاج بالريبوفلافين مبكرًا وتحسين المآل العصبي.
How is the sample collected, and what is the exact turnaround time?
A DHA‑licensed phlebotomist collects a blood or DNA sample from your home within 24 hours, and you receive the full Genetic Test clinical history form and pedigree chart are reviewed to ensure complete interpretation.
يتم سحب العينة منزليًا على يد ممرض مرخص من هيئة الصحة، وتصل النتائج خلال 3 إلى 4 أسابيع، مع إمكانية استخدام عينة DNA مستخلصة أو بطاقة FTA.
Is the SLC52A3 genetic covered by UAE health insurance?
We support direct billing to major UAE insurers and will verify your coverage for genetic testing via WhatsApp in under 60 minutes. Coverage depends on your policy’s genetic testing clause; many plans cover NGS‑based single‑gene tests when accompanied by a specialist referral. Contact +971 54 548 8731 for a no‑obligation pre‑approval check.
ندعم نظام الفوترة المباشرة مع شركات التأمين الكبرى في الإمارات، وسنتحقق من التغطية عبر واتساب في غضون ساعة – يُرجى تزويدنا بالإحالة الطبية.
🇦🇪 Regulated under Federal Decree‑Law No. 41 of 2024 (Art. 87) & UAE PDPL (Data Privacy). Minors’ testing per CDS Law 2026.
🏥 DHA Facility License: 9834453 | 🧪 ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) | 📞 WhatsApp: +971 54 548 8731
🔬 Methodology: NGS (Illumina®) with Sanger confirmation | LOINC: 81247‑7 (DNA sequence analysis, overall interpretation) – loinc.org/81247-7
🧾 ICD‑10‑CM (2026): G12.29 (Other motor neuron disease), H90.3 (Sensorineural hearing loss, bilateral), G71.8 (Other primary disorders of muscles) | Genetic Susceptibility: Z15.01
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Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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