Test Price
2,800 AEDโ Home Collection Available
SLC52A3 Gene (Fazio-Londe Disease) Genetic Test in UAE - 2,800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM โ 11 PM).
- Clinical Guidance: Complimentary Telephonic Post-Test Clinical Result Interpretation with a DHA-licensed Consultant Medical Genetics (DHA: 9294403).
- Insurance Support: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This Genetic Test screens the entire coding region of SLC52A3 to identify pathogenic variants linked to Fazio-Londe disease (progressive bulbar palsy), a rare childhood-onset riboflavin transporter deficiency. In the UAE, early diagnosis enables targeted riboflavin supplementation and multidisciplinary care, improving survival and quality of life.
| Feature | Our NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Method | Next-Generation Sequencing (NGS) โ Full gene analysis | Sanger Sequencing โ Targeted mutation hotspots |
| Turnaround Time | 3โ4 Weeks | 4โ6 Weeks |
| Detection Rate | >99% of coding variants (SNVs, indels, CNVs) | ~70% (limited to common variants) |
| Price (AED) | 2,800 | 3,200 โ 4,000 |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics, I emphasize that this test identifies pathogenic variants in SLC52A3, but clinical correlation with neurological examination and electromyography is essential. A negative result does not exclude other forms of progressive bulbar palsy. Treatment decisions must not rely solely on genetic data. Please consult your physician before discontinuing any prescribed therapy." โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
โ Advisory: Safety Exclusion Criteria
- Individuals with active systemic infection or severe immunosuppression (potential blood draw risk).
- Children under 18 years without legal guardianโs consent, as per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability and Federal Law No. 2 of 2019.
- Patients currently on high-dose anticoagulants unless cleared by the ordering physician.
๐จ Exclusion: Emergency Red Flags โ Seek Immediate Medical Attention If:
- Sudden respiratory distress, stridor, or choking episodes.
- Complete inability to swallow (acute bulbar palsy crisis).
- Altered consciousness or seizures.
Patient FAQ & Clinical Guidance
1. What is the SLC52A3 gene, and how does it relate to Fazio-Londe disease?
Answer: The SLC52A3 gene encodes riboflavin transporter RFVT3 essential for riboflavin (vitamin B2) uptake; pathogenic mutations cause riboflavin deficiency in motor neurons, leading to childhood-onset progressive bulbar palsy, which impairs swallowing, speech, and breathing.
2. Why should I choose NGS over targeted testing for SLC52A3?
Answer: NGS analyzes the entire coding region of SLC52A3, detecting novel and rare variants that targeted Sanger sequencing may miss, achieving >99% diagnostic sensitivity and enabling precise genotype-guided riboflavin supplementation and family cascade screening.
3. How is the home collection service arranged, and is insurance accepted?
Answer: Book a VIP mobile phlebotomy home collection by calling or WhatsApp +971 54 548 8731; our team verifies direct insurance billing for UAE PDPL-compliant coverage. A certified phlebotomist arrives within 24โ48 hours using temperature-controlled cold-chain transport, and results are delivered securely.
UAE Regulatory & Data Privacy Adherence
This service complies with the following UAE frameworks:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ governing the processing and transfer of health data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ regulating health information systems.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ ensuring patient consent and safety in clinical procedures.
DNA Labs UAE is DHA-licensed under Facility License No. 1143 and operates under ISO 9001:2015 certified processes.
Clinical & Logistical Metadata
| Test Name | SLC52A3 Gene (Fazio-Londe Disease) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | G12.2 |
| LOINC Code | 94122-6 |
| DHA Facility License & Address | DHA Facility License No. 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE DNA Labs UAE |
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