Test Price
2,800 AED✅ Home Collection Available
SLC52A3 Gene (Brown-Vialetto-Van Laere Syndrome Type 1) Genetic Test in UAE | 2800 AED | DHA-Compliant
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO‑Accredited NGS Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available daily from 8 AM to 11 PM with ISO‑Certified Transport.
- 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.
Test Overview & Methodology
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. 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 |
Physician Insight & Safety Protocols
A Clinical Note from Lina Osama Zaki Quteineh (DHA: 9294403)
“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.
Patient FAQ & Clinical Guidance
1. 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.
2. 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. The full genetic test clinical history form and pedigree chart are reviewed to ensure complete interpretation. The turnaround time is 3 to 4 weeks from sample receipt.
3. Is the SLC52A3 genetic test 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.
UAE Regulatory & Data Privacy Adherence
🇦🇪 This test is performed under DHA Facility License No. 1143 and adheres to the UAE's data protection framework: 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 handled with strict confidentiality and is not shared without explicit patient consent. The laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | SLC52A3 Gene (Brown-Vialetto-Van Laere Syndrome Type 1) NGS Test |
| Price (AED) | 2 800 AED |
| Turnaround Time | 3‑4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card (Peripheral Blood) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available daily from 8 AM to 11 PM |
| Methodology Used | Next‑Generation Sequencing (Illumina®) with Sanger confirmation of all clinically significant variants |
| ICD-10-CM Code | G12.29, H90.3, G71.8, Z15.01 |
| LOINC Code | 81247-7 |
| DHA Facility License & Address | License: 1143 | 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
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All reports reviewed by DHA-Certified physicians