Test Price
2,800 AED✅ Home Collection Available
SLC6A8 Gene (Creatine Deficiency Syndrome, X‑Linked) Genetic Test in UAE
Executive Summary & Core Metrics
✅ Trusted Clinical Genomics – UAE’s Most Accurate NGS Sequencing
- 99.9% Diagnostic Sensitivity via ISO‑accredited NGS processing with full gene coverage and CNV detection.
- VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – Available daily from 8 AM to 11 PM for venous blood or finger‑prick dried blood spot.
- Post‑Test Clinical Guidance – Complimentary telephonic interpretation session with a DHA‑licensed Consultant Medical Geneticist.
- Insurance Support – Direct billing verification via WhatsApp +971 54 548 8731.
Pricing: 2,800 AED (all‑inclusive, no hidden fees). Turnaround Time: 3–4 weeks from sample receipt at our Dubai Healthcare City laboratory.
Test Overview & Methodology
The SLC6A8 NGS test provides definitive molecular diagnosis for X‑linked creatine deficiency syndrome – a treatable neurometabolic disorder characterized by intellectual disability, seizures, and movement abnormalities. This comprehensive sequencing identifies point mutations, insertions, deletions, and copy‑number variants across the entire gene with >99.9% analytical sensitivity and 99.8% specificity. Early detection enables prompt initiation of creatine supplementation and supportive therapies, significantly improving neurodevelopmental outcomes.
| Feature | Our Test (DHA‑Licensed) | Closest Alternative |
|---|---|---|
| Method | NGS (Full Gene + CNV) | Sanger Sequencing (selected exons only) |
| Precision | 99.9% sensitivity & 99.8% specificity | ~85% mutation detection for point variants |
| Turnaround Time | 3–4 Weeks | 5–6 Weeks |
Physician Insight & Safety Protocols
“This next‑generation sequencing assay remains the definitive molecular standard for SLC6A8 pathogenic variant detection. However, clinicians must remember that a negative result does not exclude other creatine deficiency syndromes such as GAMT or AGAT deficiency – biochemical correlation with plasma creatine, guanidinoacetate, and urine metabolite profiling is essential. Results should always be interpreted alongside a complete clinical phenotype, and family segregation studies should be considered before concluding a non‑diagnosis. As a DHA‑registered Consultant Medical Geneticist, I emphasise that no therapeutic changes should be made solely on the basis of this genetic report without confirmatory biochemical evidence.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory – Medication & Supplement Safety
Do not discontinue, adjust, or initiate any creatine‑based regimen, anti‑epileptic medication, or dietary supplement without direct instruction from your treating physician. Sudden withdrawal can precipitate metabolic crisis or seizure exacerbation. Always consult your specialist before making any changes to existing therapies.
Safety Exclusion Criteria & Red Flags
Exclusion criteria: Inability to provide a blood or DNA sample due to severe needle phobia or extreme frailty; minors without legal guardian consent (per UAE Federal Law and DHA paediatric guidelines).
Emergency red flags – seek immediate care if: New‑onset seizures, acute developmental regression, severe muscle weakness, or unexplained metabolic acidosis occur in the patient.
Patient FAQ & Clinical Guidance
1. What exactly does the SLC6A8 gene test look for?
This NGS test scans the entire SLC6A8 gene for disease‑causing mutations that lead to X‑linked creatine transporter deficiency. It detects point mutations, small insertions and deletions, and copy‑number variants with >99.9% sensitivity, providing a definitive molecular diagnosis for this neurometabolic disorder.
2. How is the sample collected, and can I arrange a home visit?
A simple venous blood draw or a finger‑prick dried blood spot on an FTA card is collected by our DHA‑licensed phlebotomist at your home via our VIP mobile phlebotomy service. Our temperature‑controlled cold‑chain logistics ensure sample integrity during transport to our Dubai Healthcare City laboratory.
3. How soon will I get my results, and who will explain them?
You will receive your complete report within 3–4 weeks from sample receipt, followed by a scheduled tele‑consultation with our Consultant Medical Geneticist to review the findings, discuss clinical implications, and guide next steps.
4. What follow‑up testing or biochemical correlation is recommended?
If the SLC6A8 test is negative but clinical suspicion remains, we recommend plasma creatine and guanidinoacetate measurement, urine creatine/creatinine ratio, and sequencing of GAMT and AGAT genes. A normal biochemical profile with a negative SLC6A8 result effectively rules out creatine deficiency syndromes.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE complies fully with the UAE’s health data protection and privacy regulations. All genetic data is processed and stored under the requirements of 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. Clinical testing safety and patient consent protocols adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. Our laboratory holds DHA facility license number 1143 and operates under ISO‑accredited quality management systems.
Clinical & Logistical Metadata
| Test Name | SLC6A8 Gene (Creatine Deficiency Syndrome, X‑Linked) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (venous) or Finger‑Prick Dried Blood Spot on FTA card |
| Methodology Used | Next‑Generation Sequencing (Full Gene + CNV Analysis) |
| ICD-10-CM Code | E72.8 |
| LOINC Code | 91872-3 |
| DHA Facility License & Lab Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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