Test Price
2,800 AED✅ Home Collection Available
SLC16A2 Gene Pelizaeus‑Merzbacher Disease & Allan‑Herndon‑Dudley Syndrome Genetic Test in UAE – 2,800 AED
Executive Summary & Core Metrics
Comprehensive next‑generation sequencing (NGS) test for pathogenic mutations in the SLC16A2 (MCT8) gene, associated with Pelizaeus‑Merzbacher disease and Allan‑Herndon‑Dudley syndrome. ISO‑accredited processing delivers 99.9% diagnostic sensitivity and cold‑chain home collection is available daily from 8 AM to 11 PM. Post‑test telephonic consultation with a consultant medical geneticist is included.
Test Overview & Methodology
The SLC16A2 (MCT8) gene test uses next‑generation sequencing to detect pathogenic variants causing hypomyelinating leukodystrophy phenotypes, including Pelizaeus‑Merzbacher disease (PMD) and Allan‑Herndon‑Dudley syndrome (AHDS). Full coding regions and splice sites are analysed at 100× mean coverage. Turnaround time is 3–4 weeks from sample receipt.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Methodology | NGS – full coding sequence + splice sites, 100× mean coverage | Sanger sequencing of individual exons (lower sensitivity) |
| Diagnostic Precision | 99.9% analytical sensitivity for SNVs & small indels | ~95% limited to targeted region |
| Speed | 3–4 weeks | 6–8 weeks |
| Regulatory Alignment | ISO 15189‑aligned lab, DHA supervised | Variable |
Physician Insight & Safety Protocols
“SLC16A2‑related disorders typically present in early infancy with hypotonia and developmental delay. This NGS test confirms the genetic aetiology and enables tailored surveillance for thyroid dysfunction and neurological complications. Results must be integrated with clinical imaging and biochemical markers; a multidisciplinary approach including genetic counselling is essential for family‑centred care.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Medication Advisory
Do not discontinue any prescribed medication without direct consultation with your treating physician. This test does not replace ongoing neurological management or physical therapy.
Exclusion Criteria & Emergency Red Flags
- Active febrile illness or acute infection – postpone collection until resolved.
- Recent blood transfusion (within 4 weeks) may interfere with germline DNA extraction – inform lab before collection.
- If the patient develops acute deterioration in consciousness, seizures, or breathing difficulty, proceed to the nearest emergency room immediately; genetic testing is not an emergency intervention.
- Not indicated for prenatal diagnosis without prior confirmed familial mutation and professional genetic counselling.
Patient FAQ & Clinical Guidance
1. What does the SLC16A2 genetic test detect and how accurate is it?
The test screens the entire coding sequence of the SLC16A2 (MCT8) gene for pathogenic mutations, achieving 99.9% technical sensitivity for single nucleotide variants and small deletions/duplications. It is designed to confirm Allan‑Herndon‑Dudley syndrome and Pelizaeus‑Merzbacher‑like hypomyelinating leukodystrophy in children. Accuracy is ensured through bidirectional NGS and bioinformatic analysis aligned with ACMG standards.
2. How is the sample collected and do I need any special preparation?
Sample collection is a simple blood draw (peripheral whole blood). No fasting or medication adjustment is required unless explicitly instructed by the ordering physician. A trained mobile phlebotomist can visit your home or workplace daily from 8 AM to 11 PM. The specimen is transported under ISO‑certified temperature‑controlled cold chain to the laboratory.
3. How long will it take to receive results and how will I understand them?
Turnaround time is 3–4 weeks from the moment the sample reaches the lab; a comprehensive report is then reviewed by our clinical team. You will receive a telephonic consultation with the consultant medical geneticist who explains the findings, variant classification, and implications for your child’s care and family planning. All data is handled securely under UAE data protection law.
UAE Regulatory & Data Privacy Adherence
Full UAE Regulatory Compliance
This genetic testing service complies with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL), Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, and Federal Decree‑Law No. 4 of 2016 on Medical Liability. Laboratory operations are ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and supervised by DHA‑licensed professionals under DHA Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | SLC16A2 (MCT8) Gene NGS – Pelizaeus‑Merzbacher Disease & Allan‑Herndon‑Dudley Syndrome |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA) – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (daily 8 AM–11 PM) |
| Methodology Used | Next‑Generation Sequencing (NGS) – full coding region plus splice sites, 100× mean coverage |
| ICD‑10‑CM Code | E71.1 (Allan‑Herndon‑Dudley syndrome), E75.23 (Pelizaeus‑Merzbacher disease) |
| LOINC Code | 82992‑1 (SLC16A2 gene targeted mutation analysis) |
| 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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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians