Test Price
2,800 AED✅ Home Collection Available
SLC52A1 Gene Riboflavin Deficiency Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Test Overview & Methodology
The SLC52A1 NGS test sequences the entire coding region and splice sites of the riboflavin transporter gene, detecting single‑nucleotide variants, small insertions/deletions, and copy‑number changes linked to infant‑onset neurological decline. This targeted approach offers superior sensitivity and specificity compared to traditional methods.
| Feature | Our Test (NGS) | Traditional Sanger Sequencing | Whole Exome Sequencing (WES) |
|---|---|---|---|
| Target Coverage | Complete SLC52A1 gene (exons, splice sites) | Selected exons only | ~20,000 genes (untargeted) |
| Detection Sensitivity | 99.9% (validated analytical sensitivity) | ~95% (limited to sequenced regions) | ~90% (variable coverage) |
| Turnaround Time | 3–4 weeks | 2–3 weeks | 4–8 weeks |
| Clinical Report | ACMG guideline‑based variant classification with carrier status | Basic variant listing | Broad, often incidental findings |
| Price (AED) | 2800 | ~2000 | ~4000 |
Physician Insight & Safety Protocols
“This genetic test confirms a treatable neurometabolic disorder, but a negative result does not exclude biochemical riboflavin deficiency; always correlate with plasma riboflavin levels, acylcarnitine profile, and neurological exam. Early riboflavin supplementation can be life‑saving, so clinical judgment must guide treatment before results arrive.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication Warning
Do not discontinue prescribed medication or supplements without consulting your doctor. Riboflavin supplementation should start only under specialist supervision, especially in infants with suspected acute neurological deterioration.
Safety Exclusion Criteria & ER Red Flags
- Exclusion: Acute severe illness requiring immediate ICU admission, inability to provide informed consent (guardian required for minors per Federal Law No. 2 of 2019), non‑UAE residents without valid Emirates ID.
- ER Red Flags – seek emergency care immediately: Sudden vision loss, respiratory distress, stridor, profound hypotonia with swallowing difficulty, or loss of consciousness.
- Genetic counselling with a certified geneticist (pedigree charting) is mandatory before sample collection.
Patient FAQ & Clinical Guidance
1. What does the SLC52A1 NGS test detect?
This targeted genetic test detects pathogenic variants in the SLC52A1 gene causing riboflavin transporter deficiency type 1. It sequences all exons and adjacent intronic regions using next‑generation sequencing with a validated sensitivity of 99.9%, enabling precise carrier screening and diagnostic confirmation even before symptoms fully manifest.
2. Why choose this test in the UAE?
Our DHA‑licensed lab offers ISO‑certified NGS analysis achieving 99.9% sensitivity for accurate carrier screening and diagnosis. We integrate genetic counselling, home blood collection, and insurance verification—all compliant with UAE PDPL, Federal Law No. 2 of 2019, and DHA genetic testing regulations.
3. How is the sample collected and when will I receive results?
Our VIP Mobile Phlebotomy service provides home collection of peripheral whole blood or DNA FTA card under temperature‑controlled cold-chain transport. Results are delivered within 3–4 weeks after sequencing and clinical interpretation.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
This genetic test is performed in full compliance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring patient genetic data privacy and consent management.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing digital health records and telemedicine.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – guaranteeing clinical safety and patient rights.
- Dubai Healthcare City Authority regulations and DHA standards for genetic testing laboratories.
Clinical & Logistical Metadata
| Test Name | SLC52A1 Gene Riboflavin Deficiency Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or DNA FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) – targeted gene panel |
| ICD-10-CM Code | E53.0 |
| LOINC Code | 94835-3 |
| DHA Facility License & Address | License No. 1143 – DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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