Test Price
2,800 AED✅ Home Collection Available
SCN1B Gene Generalized Epilepsy with Febrile Seizures Plus Type 1 Genetic Test in UAE
Executive Summary & Core Metrics
- Privacy & Compliance: All genetic data processed under 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. No patient data is shared outside the UAE.
- Diagnostic Precision: 99.9% analytical sensitivity and specificity via ISO 15189 & ISO 9001:2015 accredited next-generation sequencing (NGS) with orthogonal Sanger confirmation of all pathogenic variants.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. Home collection for minors is performed exclusively by DHA-licensed pediatric phlebotomists.
- Clinical Guidance: Complimentary telephonic post-test clinical guidance session with a DHA-licensed genetic counselor for result interpretation in plain English.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731; all major UAE insurers accepted including Brokers National, ADNIC, and Oman Insurance.
Price: 2,800 AED (inclusive of GST) — single-gene NGS analysis with full SCN1B coding region coverage.
Test Overview & Methodology
This targeted next-generation sequencing (NGS) assay analyzes the entire coding region and flanking intronic boundaries of the SCN1B gene (NM_001037.5) with a minimum read depth of 100x across 98% of the target region. Pathogenic and likely pathogenic variants are confirmed by Sanger sequencing before clinical reporting. The test is designed specifically for individuals presenting with febrile seizures persisting beyond age 6 years, afebrile generalized tonic-clonic seizures, or a family history consistent with autosomal dominant inheritance of GEFS+ type 1.
A detailed clinical history, three-generation family pedigree chart, and appropriate specimen collection are required prior to testing. Acceptable specimens include: 3 mL whole blood in EDTA (lavender-top tube), 5 µg extracted DNA (≥10 ng/µL), or one drop of blood on an FTA card. No drug or supplement restrictions apply; patients should continue routine antiepileptic medications as prescribed.
| Feature | SCN1B Targeted NGS | Whole Exome Sequencing (WES) |
|---|---|---|
| Target Precision | 100% coding region coverage of SCN1B with deep read depth (≥100x) | Variable coverage; may miss exon 1 due to GC-rich regions |
| Methodology | NGS + Sanger confirmation of all pathogenic/likely pathogenic variants | NGS only; often requires orthogonal confirmation |
| Turnaround Time | 10–14 business days (3–4 calendar weeks) | 6–8 weeks |
| Clinical Yield for GEFS+ | High — specifically designed for SCN1B variants | Low unless combined with phenotype-driven analysis |
| Secondary Findings | No incidental findings outside SCN1B | ACMG secondary findings reported routinely |
Physician Insight & Safety Protocols
"A positive SCN1B variant alone does not equate to a clinical diagnosis of GEFS+ type 1; the molecular finding must always be correlated with seizure semiology, age of onset, EEG patterns, and family history. This test offers high specificity for sodium channel dysfunction, but post-test genetic counseling is essential to differentiate pathogenic variants from benign polymorphisms and to guide cascade testing for at-risk relatives."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Safety Advisory
Patients prescribed sodium channel-blocking antiepileptic drugs (e.g., carbamazepine, oxcarbazepine, phenytoin, lamotrigine) should not discontinue therapy without explicit neurologist guidance. Abrupt withdrawal in individuals with SCN1B-related epilepsy can precipitate seizure exacerbation, prolonged convulsive episodes, or life-threatening status epilepticus. Dose adjustments should only be performed under continuous clinical supervision.
Safety Exclusion & Emergency Red Flags
- Sample Exclusion Criteria: Insufficient DNA yield (<10 ng/µL), improper collection (non-EDTA tube, dry blood spot not on FTA card, or degraded DNA with DIN <7.0). Samples from patients who have received a hematopoietic stem cell transplant within the last 3 months are excluded due to donor chimerism interference.
- Patient Exclusion Criteria: Individuals unable to provide informed consent. Minors require written parental consent with witnessed signature in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Emergency Red Flag — Seek Immediate Care: New onset of a seizure lasting longer than 5 minutes (status epilepticus), recurrent seizures without full recovery of consciousness between episodes, or first-time seizure in a patient with no prior epilepsy diagnosis. These require immediate emergency medical evaluation at the nearest hospital.
- Emergency Red Flag — Urgent Neurological Assessment: Sudden change in seizure semiology, post-ictal respiratory distress, or sustained altered mental status beyond 30 minutes following a convulsive event. Call 998 for ambulance transport.
Patient FAQ & Clinical Guidance
1. What is the accuracy of the SCN1B gene test for diagnosing febrile seizure epilepsy?
The SCN1B targeted NGS test achieves over 99.9% analytical sensitivity and specificity for pathogenic variants within the coding region and splice sites. Clinical sensitivity for GEFS+ type 1 depends on the patient's phenotype and family history; when that clinical context is strongly suggestive of sodium channel dysfunction, the test provides definitive molecular confirmation in approximately 10–15% of tested individuals. A negative result does not rule out GEFS+ and may warrant broader epilepsy gene panel testing.
2. Can this test be performed on children?
Yes, this test is safe and clinically validated for patients of all ages. For minors under 18 years, written parental or guardian consent is mandatory, and the parent must be present during the blood collection. Home phlebotomy for children is conducted by DHA-licensed pediatric nurses using age-appropriate techniques (finger-prick for infants or small-volume venipuncture). A topical anesthetic patch can be applied before puncture to minimize discomfort.
3. How long does it take to get results and how are they interpreted?
The standard turnaround time is 10–14 business days (3–4 calendar weeks) from sample receipt in the laboratory. The final report includes variant classification according to ACMG/AMP 2015 guidelines (Pathogenic, Likely Pathogenic, Variant of Uncertain Significance, Likely Benign, Benign). Every report is accompanied by a mandatory telephonic post-test clinical guidance session with a DHA-licensed genetic counselor who explains the findings in plain English and provides recommendations for family cascade testing, neurologist referral, and follow-up care.
4. Will insurance cover the cost of this genetic test?
DNA Labs UAE is in-network with all major UAE health insurance carriers including Brokers National, ADNIC, Oman Insurance, and Daman. Direct billing verification can be arranged by contacting our insurance team via WhatsApp at +971 54 548 8731. Out-of-pocket cost is 2,800 AED for uninsured patients, inclusive of GST, NGS sequencing, Sanger confirmation, and the post-test clinical guidance session.
UAE Regulatory & Data Privacy Adherence
- Data Privacy Protection: All genetic sequence data, clinical phenotypes, and personally identifiable information are processed, stored, and transmitted in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). No genomic data is transferred outside the UAE without explicit data subject consent and DHA approval.
- Health Information Governance: Laboratory information management and electronic health record interoperability adhere to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. All data is encrypted at rest (AES-256) and in transit (TLS 1.3).
- Patient Consent and Medical Liability: Informed consent for genetic testing, including storage of residual DNA and future re-analysis options, is obtained in writing and documented per Federal Decree-Law No. 4 of 2016 on Medical Liability. Patients have the right to withdraw consent and request data deletion at any time.
- Accreditation & Certification: The DNA Labs UAE genetics laboratory holds ISO 15189:2022 (Medical Laboratories) and ISO 9001:2015 (Quality Management) accreditation. All NGS workflows are validated annually against CAP/CLIA proficiency testing standards.
Clinical & Logistical Metadata
| Test Name | SCN1B Gene Sequencing — Generalized Epilepsy with Febrile Seizures Plus Type 1 (GEFS+ Type 1) |
| Price (AED) | 2,800 AED (inclusive of GST) |
| Turnaround Time | 10–14 business days (3–4 calendar weeks) from sample receipt |
| Sample Type / Matrix | 3 mL whole blood in EDTA (lavender-top tube), or 5 µg extracted DNA (≥10 ng/µL), or one drop blood on FTA card — VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) on Illumina platform with ≥100x coverage depth, plus Sanger sequencing confirmation of all pathogenic and likely pathogenic variants |
| ICD-10-CM Code | G40.89 (Other specified epilepsy and recurrent seizures) |
| LOINC Code | 21636-6 (SCN1B gene mutation analysis in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
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