Test Price
2,800 AEDโ Home Collection Available
SLC12A6 Genetic Test in UAE | AED 2,800 | DHA Licensed Molecular Diagnostics
Executive Summary & Core Metrics
Accredited next-generation sequencing (NGS) analysis of the entire SLC12A6 gene with 99.9% diagnostic sensitivity for pathogenic variants causing agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome). The test is performed under ISO 9001:2015 quality management and includes VIP mobile phlebotomy, telephonic post-test clinical guidance by a DHA-licensed Consultant Medical Geneticist, and direct insurance billing verification via WhatsApp.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited processing.
- Premium Logistics: Hospital-Grade Home Collection via ISO Certified Cold-Chain.
- VIP Mobile Phlebotomy: 8 AM โ 11 PM, 7 days a week.
- Clinical Guidance: Post-test telephonic result interpretation by DHA-licensed Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced NGS test analyses the entire SLC12A6 gene including intronic regions and copy number variants (CNVs) to detect pathogenic mutations responsible for agenesis of the corpus callosum with peripheral neuropathy. The test provides definitive molecular diagnosis for patients presenting with neurological symptoms such as developmental delay, hypotonia, and progressive axonal neuropathy, and guides family risk assessment and reproductive planning.
| Feature | Our SLC12A6 NGS Test | Standard PCR / Single Exon |
|---|---|---|
| Methodology | NGS (Full Gene + CNV) | Sanger sequencing of hotspots |
| Diagnostic Yield | Greater than 99% for coding variants | Approximately 65% (misses large deletions) |
| Turnaround Time | 25โ28 days | 6โ8 weeks |
| Sample Types | Blood, Extracted DNA, Dried Blood Spot | Blood only |
| Regulatory Compliance | DHA/MOHAP Licensed, ISO 9001:2015 | Variable |
Physician Insight & Safety Protocols
"A pathogenic variant in SLC12A6 confirms the diagnosis of Andermann syndrome, yet clinical correlation with MRI findings for agenesis of the corpus callosum and nerve conduction studies for peripheral neuropathy remains essential. Negative sequencing does not exclude all genetic neuropathies; therefore, a multidisciplinary evaluation involving neurology, genetics, and rehabilitation medicine is strongly recommended before concluding on management."
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory Notice on Medication and Clinical Management
Clinical Advisory: Do not alter or discontinue any prescribed treatment regimen without direct consultation with your managing physician. This genetic test is designed to inform diagnosis and family counselling and does not replace a comprehensive neurological evaluation or emergency medical care.
Safety Exclusion Criteria & Emergency Red Flags
- Patients with acute systemic illness or active febrile episode should postpone blood collection until clinically stable.
- Severe anaemia or known coagulation disorders require prior physician clearance before venipuncture.
- Paediatric testing (patients under 18 years) mandates documented parental or guardian consent in accordance with UAE Child Protection Law (Federal Law No. 3 of 2016).
- Emergency red flags โ sudden loss of consciousness, respiratory distress, or new-onset seizures โ warrant immediate emergency medical attention and must not be delayed pending genetic test results.
Patient FAQ & Clinical Guidance
1. What does the SLC12A6 genetic test detect and who should consider it?
This NGS test identifies pathogenic variants in the SLC12A6 gene responsible for agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome). It is indicated for patients presenting with partial or complete agenesis of the corpus callosum on neuroimaging, progressive axonal neuropathy, developmental delay, or a family history suggestive of autosomal recessive Andermann syndrome. Pre-test genetic counselling is mandatory and included in the service.
2. How is the test performed and what is the turnaround time?
A venous blood sample is collected via our VIP home phlebotomy service using ISO-certified cold-chain logistics. DNA is extracted and analysed by high-depth NGS covering all coding exons, intronic boundaries, and CNV detection. Results are delivered within 25โ28 calendar days accompanied by a comprehensive clinical interpretation report from a Consultant Medical Geneticist.
3. Is genetic counselling required before the test?
Yes, a mandatory pre-test genetic counselling session is conducted to construct a detailed three-generation pedigree, discuss inheritance patterns, and obtain written informed consent in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability and data privacy standards under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates in full compliance with UAE federal healthcare regulations. Patient genetic data is processed and stored under the protections 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 governance and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory holds DHA Facility License Number 1143 and is accredited under ISO 9001:2015 for quality management systems.
Clinical & Logistical Metadata
| Test Name | SLC12A6 Gene Sequencing (NGS + CNV Analysis) |
| Price (AED) | 2,800 |
| Turnaround Time | 25โ28 calendar days |
| Sample Type / Matrix | Peripheral whole blood, extracted DNA, or dried blood spot |
| Methodology Used | Next-Generation Sequencing (NGS) with CNV deletion/duplication analysis |
| ICD-10-CM Code | Q04.0, G60.0 |
| LOINC Code | 8251-1 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
ุฏุนู ุซูุงุฆู ุงููุบุฉ ู ุชุงุญ
ุงูุชุญูู ู ู ุงูุชุบุทูุฉ ุงูุชุฃู ูููุฉ
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
ุชููู ุนู ุงูุชุฎู ูู. ุฃุฑุณู ุตูุฑุฉ ู ู ุจุทุงูุฉ ุงูุชุฃู ูู ููุตูุฉ ุงูุทุจูุจ ุฅูู ูุฑูู ุงูุชุญูู ุงูู ุนุชู ุฏ ู ู ููุฆุฉ ุงูุตุญุฉ ุจุฏุจู ุนุจุฑ ุงููุงุชุณุงุจ. ุงุญุตู ุนูู ุชุญุฏูุซ ุงูุญุงูุฉ ูู ุฏูุงุฆู.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians