Test Price
2,800 AED✅ Home Collection Available
SLC2A1 Gene GLUT1 Deficiency Syndrome Type 1 Genetic Test in UAE | 2800 AED | DHA Regulatory Compliance
Executive Summary
99.9% Diagnostic Sensitivity – ISO 9001:2015 certified processing under strict cold‑chain protocols. Premium Logistics – VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM. Clinical Guidance – Telephonic post‑test result interpretation with a DHA‑licensed medical geneticist. Insurance & Billing – Direct billing verification and pre‑approval support via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The SLC2A1 NGS test sequences the entire GLUT1 gene to identify pathogenic variants causing glucose transporter type 1 deficiency syndrome, a treatable neurometabolic disorder. This comprehensive assay enables accurate diagnosis for early intervention with ketogenic diet therapy.
| Feature | Our Test: SLC2A1 NGS | Conventional Single‑Gene Testing |
|---|---|---|
| Precision | ≥99.9% analytical sensitivity and specificity | ~80–85% diagnostic yield for known variants only |
| Methodology | Next Generation Sequencing (NGS) with full bioinformatics pipeline | Sanger sequencing of selected exons |
| Turnaround Time | 3–4 weeks from sample receipt | 1–2 weeks (incomplete gene coverage) |
| Gene Coverage | Full SLC2A1 gene including deep intronic and promoter regions | Limited to selected exons and flanking splice sites |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I emphasize that the SLC2A1 NGS assay provides definitive molecular confirmation of GLUT1 deficiency syndrome with exceptional accuracy. However, this test must be interpreted alongside clinical findings including seizure semiology, CSF‑to‑blood glucose ratio, and neuroimaging. The ketogenic diet remains the cornerstone of therapy for confirmed cases, and medication adjustments should only be made under direct medical supervision. Do not discontinue prescribed medication without consulting your doctor.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Individuals who have received a hematopoietic stem cell transplant within the last six weeks; patients unable to provide a sufficient venous blood sample or DNA FTA card; minors without a legal guardian’s written consent (in accordance with UAE Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Emergency Red Flags: If the patient experiences acute hypoglycemia (blood glucose <40 mg/dL with neuroglycopenic symptoms), prolonged seizures, or status epilepticus, do not wait for test results—proceed immediately to the nearest emergency department.
Patient FAQ & Clinical Guidance
1. What is the SLC2A1 GLUT1 deficiency syndrome type 1 NGS test?
The SLC2A1 NGS test fully sequences the GLUT1 gene to detect disease‑causing mutations responsible for glucose transporter type 1 deficiency syndrome. It provides a definitive molecular diagnosis to guide targeted treatment with a ketogenic diet.
2. Who should consider this genetic test?
Individuals with early‑onset epilepsy, paroxysmal exercise‑induced dyskinesia, or cognitive delay suspicious for GLUT1 deficiency should discuss testing after neurological and genetic counseling. It is especially recommended when CSF glucose is low and responsive to ketogenic therapy.
3. How is the home collection service conducted for this test?
A DHA‑licensed phlebotomist arrives at your location between 8 AM and 11 PM, collects a whole blood sample (or DNA FTA card), and transports it in a certified temperature‑controlled cold‑chain container to our ISO‑accredited laboratory. The sample must reach the lab within 24 hours to ensure DNA stability.
UAE Regulatory & Data Privacy Adherence
All genetic testing is performed in strict compliance with 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. Patient data is encrypted and stored securely. Laboratory operations are overseen by the Dubai Health Authority under the facility license number 1143. This test adheres to UAE clinical governance standards for genetic diagnostics.
Clinical & Logistical Metadata
| Test Name | SLC2A1 Gene GLUT1 Deficiency Syndrome Type 1 Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or DNA FTA card – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | Next Generation Sequencing (NGS) – Full gene coverage including deep intronic and promoter regions |
| ICD-10-CM Code | E74.8 (Other disorders of carbohydrate metabolism – GLUT1 deficiency syndrome) |
| LOINC Code | 78041-6 (Gene targeted mutation analysis for GLUT1) |
| DHA Facility License & Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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