Test Price
2,800 AED✅ Home Collection Available
SLC2A1 Gene GLUT1 Deficiency Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
The SLC2A1 gene next-generation sequencing test delivers certified molecular diagnosis for GLUT1 deficiency syndrome, detecting pathogenic variants associated with paroxysmal dyskinesia, early-onset epilepsy, and developmental encephalopathy. This analytical service supports targeted dietary intervention planning within a regulated diagnostic framework.
- Analytical Sensitivity: 99.9% diagnostic yield via ISO 9001:2015 accredited NGS workflow.
- Logistics Framework: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM.
- Post-Analysis Support: Telephonic genetic counselling session included with result disclosure.
- Insurance Facilitation: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This molecular assay utilises next-generation sequencing on the Illumina® platform to interrogate the full coding region, flanking intronic boundaries, and copy-number status of the SLC2A1 gene. Bioinformatic variant calling against the GRCh38 reference genome ensures comprehensive detection of missense, nonsense, splice-site, and structural variants implicated in GLUT1 deficiency spectrum disorders.
| Feature | Our Test – SLC2A1 NGS | Single-Gene Sanger Alternative |
|---|---|---|
| Genomic Coverage | Full gene, flanking regions, CNV detection | Exon-by-exon, limited structural analysis |
| Platform | Illumina® NGS with bioinformatic confirmation | Bidirectional Sanger, manual interpretation |
| Reporting Timeline | 3–4 weeks | 4–6 weeks |
Physician Insight & Safety Protocols
“This genetic test offers precise molecular confirmation for GLUT1 deficiency, yet it must be interpreted alongside neurological examination findings and cerebrospinal fluid glucose levels. Families should review results with a metabolic neurologist to personalise ketogenic diet initiation and anticonvulsant adjustments.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory on Medication Continuity
Maintain all prescribed therapies until explicitly directed otherwise by your treating physician. Abrupt discontinuation of seizure medication or metabolic supplements may precipitate clinical deterioration. Any regimen modification must occur under specialist supervision following full molecular results.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Asymptomatic individuals lacking clinical suspicion of GLUT1 deficiency syndrome.
- Exclusion: Patients unable to undergo concurrent cerebrospinal fluid glucose analysis when required for phenotype correlation.
- Emergency Indicators: New-onset seizure clusters, acute encephalopathy, unexplained loss of motor milestones — present immediately to the nearest emergency department.
Patient FAQ & Clinical Guidance
1. What condition does the SLC2A1 gene test diagnose?
This test detects pathogenic variants in the SLC2A1 gene that cause GLUT1 deficiency syndrome, a metabolic disorder impairing glucose transport across the blood-brain barrier. Clinically, it manifests as paroxysmal dyskinesia, drug-resistant epilepsy, developmental delay, and acquired microcephaly. Molecular confirmation enables targeted therapy with a ketogenic diet, which provides an alternative cerebral fuel source.
2. How is the specimen collected and what is the turnaround time?
A certified phlebotomist collects peripheral blood or oral mucosa via FTA card under sterile protocol. The sample is transported using a temperature-controlled cold chain to our ISO 9001:2015 accredited laboratory. Results are reported within 3 to 4 weeks and include a detailed variant interpretation with ACMG classification, segregation recommendations, and dietary management guidance.
3. Is this genetic test covered by UAE health insurance?
Many UAE health insurers cover medically indicated genetic testing when supported by a specialist referral and DHA circular compliance. Our team facilitates direct billing verification via WhatsApp at +971 54 548 8731. Prior approval timelines vary by insurer; we recommend confirming coverage before sample collection.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) governing the lawful collection, processing, and storage of genetic data. It also adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, which mandates secure electronic health records and audit trails. Clinical testing safety and informed consent procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability. All molecular analyses are performed at DNA Labs UAE, an ISO 9001:2015 certified facility, under DHA Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | SLC2A1 Gene GLUT1 Deficiency Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood or Oral Mucosa (FTA Card) |
| Methodology Used | Next-Generation Sequencing (Illumina® Platform) with Bioinformatic CNV Analysis |
| ICD-10-CM Code | E74.81 |
| LOINC Code | 81329-1 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians