Test Price
2,800 AED✅ Home Collection Available
SCN9A Gene Sequencing (NGS) for Dravet Syndrome Modifier Variants – Dubai Healthcare City
Executive Summary & Core Metrics
Next‑generation sequencing (NGS) analysis of the SCN9A gene to identify modifier variants that influence the severity and treatment response of Dravet syndrome. This test offers 99.9% diagnostic sensitivity for SCN9A coding regions and splice sites, delivered via an ISO‑certified pipeline and accompanied by post‑test genetic counselling.
- Accuracy Guarantee: 99.9% sensitivity, 500x read depth, ISO‑15189 compliant.
- Home Collection Logistics: VIP mobile phlebotomy, 8 AM–11 PM daily, with temperature‑controlled cold‑chain transport.
- Post‑Test Guidance: Complimentary telephone consultation with a board‑certified medical geneticist.
- Insurance & Billing: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This targeted NGS assay sequences the entire SCN9A gene (coding exons and flanking intronic regions) to detect missense, nonsense, splice‑site, and copy‑number variants that act as phenotypic modifiers in Dravet syndrome. The comprehensive analysis goes beyond standard SCN1A‑focused panels, providing critical prognostic and therapeutic guidance for families.
| Feature | Our SCN9A Modifier Test | Standard Dravet Panel (SCN1A only) |
|---|---|---|
| Precision | NGS with 500x read depth; detects missense, nonsense, splice‑site and copy‑number variants | Sanger sequencing focused on SCN1A; limited modifier insight |
| Methodology | NGS (Next Generation Sequencing) – ISO‑accredited pipeline | Sanger sequencing, MLPA |
| Turnaround Time | 3–4 weeks (expedited available) | 4–6 weeks |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I emphasize that SCN9A modifier findings must always be correlated with the patient’s complete clinical picture and family history. A negative result does not exclude Dravet syndrome if the hallmark seizure phenotype and SCN1A mutation are present. Genetic testing should never replace a thorough clinical evaluation—please do not make any treatment changes without discussing the results with your treating neurologist.”
– Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Safety Warning
Do not discontinue or alter any prescribed anti‑epileptic medication based solely on genetic findings. Abrupt withdrawal of seizure medications can trigger life‑threatening breakthrough seizures or status epilepticus. Always consult the treating physician before any therapeutic changes.
Exclusion Criteria & Emergency Red Flags
- Patients with known bleeding disorders (e.g., haemophilia) or those on high‑dose anticoagulants require a pre‑phlebotomy risk assessment.
- If the patient is currently experiencing status epilepticus, acute febrile illness, or severe dehydration, postpone sample collection until medically cleared.
- Seek immediate emergency care if the patient develops a seizure lasting longer than five minutes, multiple seizures without recovery, respiratory distress, or altered consciousness.
Patient FAQ & Clinical Guidance
1. What is the clinical utility of SCN9A modifier testing in Dravet syndrome?
This test identifies SCN9A variants that may influence seizure severity, developmental outcomes, and response to specific therapies, thereby guiding personalised treatment strategies. SCN9A encodes a sodium channel subunit that can exacerbate or ameliorate the phenotype in SCN1A‑positive Dravet patients, offering critical prognostic information for families.
2. How is the sample collected, and is any special preparation required?
A single blood draw (whole blood, extracted DNA, or a dried blood spot on an FTA card) is sufficient. No fasting or medication discontinuation is necessary unless your physician advises otherwise. Our DHA‑licensed phlebotomist visits your home at the scheduled slot, using cold‑chain transport that maintains specimen integrity throughout.
3. What does the 3‑ to 4‑week turnaround mean for my child’s care, and how will I receive the results?
Results are interpreted by a board‑certified molecular geneticist and delivered via a secure, encrypted report within 3–4 weeks, followed by a tele‑consultation to explain the findings and their implications. The report includes detailed variant classification (pathogenic, likely pathogenic, VUS) and clinical correlation recommendations. Expedited reporting is available upon request.
UAE Regulatory & Data Privacy Adherence
Data Protection: Your genetic data is handled in full compliance with 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. All genetic results are encrypted in transit and at rest, accessible only to authorised clinical personnel and the patient. No third‑party sharing occurs without explicit written consent.
Medical Liability: Clinical testing safety and patient consent follow Federal Decree‑Law No. 4 of 2016 on Medical Liability.
All procedures are supervised by the Dubai Health Authority (DHA) under Facility License Number 1143 and adhere to ISO 9001:2015 quality standards.
Clinical & Logistical Metadata
| Test Name | SCN9A Gene Sequencing (NGS) for Dravet Syndrome Modifier Variants |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks (expedited available) |
| Sample Type / Matrix | Whole Blood (EDTA), extracted DNA, or dried blood spot (FTA card) |
| Methodology Used | Next‑Generation Sequencing (NGS), 500x read depth, ISO‑accredited pipeline |
| ICD-10-CM Code | G40.3 (Dravet syndrome) |
| LOINC Code | 94762-2 (SCN9A gene mutation analysis) |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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