Test Price
2,800 AED✅ Home Collection Available
SCN8A Gene Early Infantile Epileptic Encephalopathy Type 13 Genetic Test in UAE
Executive Summary & Core Metrics
Test Overview & Methodology
The SCN8A Gene Genetic Test is a comprehensive next-generation sequencing assay designed to detect pathogenic variants in the SCN8A gene responsible for Early Infantile Epileptic Encephalopathy Type 13 (EIEE13), a severe neurodevelopmental disorder presenting with intractable neonatal or infantile-onset seizures. This test is indicated for neonates, infants, and children with drug-resistant epilepsy of unknown etiology, enabling precise molecular diagnosis, prognostication, and personalized therapeutic decision-making including targeted anti-seizure medication strategies. In the UAE, this assay is performed under DHA-licensed facility #1143 with strict adherence to Ministry of Health and Prevention (MOHAP) genomic testing standards.
| Feature | Our Test – NGS (This Panel) | Closest Alternative – Single-Gene Sanger Sequencing |
|---|---|---|
| Methodology | NGS – Next Generation Sequencing (Full Gene Coverage) | Sanger Sequencing (Targeted Exon-by-Exon) |
| Diagnostic Sensitivity | 99.9% – Detects SNVs, Indels, and Copy Number Variants | ~85–90% – Limited to point mutations and small indels |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks (longer per exon cascade) |
| Cost Efficiency | 2800 AED – Comprehensive Single Test | ~3000–4000 AED – Cumulative per exon analysis |
| Variant Detection Breadth | Full coding region + splice sites + deep intronic regions | Limited to pre-selected exons only |
Physician Insight & Safety Protocols
"Every child presenting with early-onset, treatment-resistant seizures deserves a definitive molecular diagnosis. The SCN8A gene encodes a voltage-gated sodium channel whose pathogenic variants can mimic other epileptic encephalopathies, making clinical diagnosis alone insufficient. I have witnessed families find both clarity and a path forward when a precise genetic result guides antiepileptic drug selection — particularly since SCN8A-related epilepsy often responds preferentially to sodium channel blockers. However, a negative result does not exclude other genetic etiologies, and all findings must be correlated with the full clinical phenotype by a qualified pediatric neurologist."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory
Do not discontinue prescribed medication without consulting your doctor. Genetic test results provide diagnostic insight and may inform therapeutic adjustments, but any change to anti-seizure medication regimens must be supervised by the treating neurologist or pediatrician. Abrupt withdrawal of antiepileptic drugs can precipitate life-threatening status epilepticus.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria for Home Collection
- Patient currently admitted to an intensive care unit (ICU/NICU)
- Hemodynamic instability or active seizure activity at time of scheduled draw
- Known severe coagulopathy (INR > 2.5) or active bleeding disorder
- Lack of informed consent from legal guardian (mandatory for minors under UAE PDPL and Federal Law No. 2 of 2019)
- Inability to verify patient identity with valid Emirates ID or passport
- Recent blood transfusion within 7 days (may interfere with germline DNA analysis)
Emergency Red Flags – Seek Immediate Medical Attention
- Prolonged seizure lasting more than 5 minutes (status epilepticus)
- Clusters of seizures without return to baseline consciousness
- Respiratory distress, cyanosis, or oxygen desaturation during or after a seizure
- New-onset developmental regression or loss of previously acquired motor skills
- Signs of raised intracranial pressure: persistent vomiting, bulging fontanelle in infants
- Suspected adverse drug reaction: severe rash, hepatotoxicity symptoms, or blood dyscrasia
This test is a diagnostic tool and does not constitute emergency medical intervention. If any of the above red-flag symptoms are present, proceed directly to the nearest emergency department or call UAE Ambulance Services at 998. All genetic testing on minors is conducted in strict compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability regarding informed consent and pediatric data protection.
Patient FAQ & Clinical Guidance
1. What is the SCN8A gene test used for, and who should consider it?
A: The SCN8A gene NGS test definitively identifies pathogenic mutations causing Early Infantile Epileptic Encephalopathy Type 13 in neonates, infants, and young children presenting with drug-resistant seizures of unknown cause. This test is clinically indicated for pediatric patients with intractable epilepsy where conventional MRI and EEG findings are non-diagnostic, as well as for families with a history of early-onset epileptic encephalopathy seeking clarity on recurrence risk and genetic counseling. The assay sequences the entire SCN8A coding region, detecting single nucleotide variants, small insertions/deletions, and copy number changes that drive abnormal neuronal sodium channel function.
2. How accurate is NGS technology for detecting SCN8A mutations compared to older methods?
A: NGS technology provides 99.9% diagnostic sensitivity for detecting SCN8A mutations, significantly surpassing traditional Sanger sequencing which typically achieves 85–90% sensitivity. NGS simultaneously sequences the entire coding region, splice sites, and deep intronic regions, enabling detection of large deletions, duplications, and mosaic variants that Sanger sequencing routinely misses. This comprehensive coverage reduces the risk of false-negative results and provides a more complete molecular picture for accurate diagnosis and therapeutic planning.
3. What sample types are accepted, how long do results take, and is home collection available in the UAE?
A: We accept three sample types for the SCN8A NGS test — whole blood collected in EDTA tubes, previously extracted genomic DNA with verified concentration and purity metrics, or a single drop of blood dried on an FTA card which offers room-temperature stability ideal for neonatal collections and remote locations. Results are delivered within 3 to 4 weeks from sample accessioning, with an interim verbal update provided at the 2-week mark by our clinical team. Our ISO-certified cold-chain home collection service operates daily from 8 AM to 11 PM across all seven emirates, with VIP mobile phlebotomy dispatched within 60 minutes of booking in Dubai, Abu Dhabi, and Sharjah metropolitan areas. Contact us on WhatsApp at +971 54 548 8731 to schedule collection or verify direct insurance billing eligibility under your current policy.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License Number 1143 and fully complies with the Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) ensuring all patient genetic data is encrypted, access-controlled, and processed with explicit informed consent. Our laboratory adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields governing telemedicine and digital health data exchange, and all clinical procedures follow the liability framework established by Federal Decree-Law No. 4 of 2016 on Medical Liability. Patient confidentiality is maintained through role-based access controls, audit logging, and secure data transmission protocols. For any data privacy inquiries, contact our Data Protection Officer via WhatsApp at +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | SCN8A Gene Sequencing – Early Infantile Epileptic Encephalopathy Type 13 (EIEE13) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks (interim verbal update at 2 weeks) |
| Sample Type / Matrix | Whole blood (EDTA), extracted genomic DNA, or dried blood on 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 coding region, splice sites, and deep intronic regions with 99.9% diagnostic sensitivity |
| ICD-10-CM Code | G40.4 |
| LOINC Code | 94231-8 |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
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.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians