Test Price
2,800 AED✅ Home Collection Available
SPTAN1 Gene Early Infantile Epileptic Encephalopathy Type 5 Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited processing.
- Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection, available daily 8 AM–11 PM.
- Clinical Guidance: Telephonic post-test clinical guidance by a DHA-licensed consultant medical geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The SPTAN1 gene Next-Generation Sequencing (NGS) test comprehensively sequences the entire coding region of the SPTAN1 gene to identify pathogenic variants responsible for Early Infantile Epileptic Encephalopathy Type 5 (EIEE5). This severe pediatric neurogenetic disorder is characterised by early‑onset seizures, profound developmental delay, and cerebellar atrophy. Targeted single‑gene analysis provides higher depth and faster turnaround than whole‑exome sequencing, enabling precise diagnosis and early intervention.
| Feature | Our Test – SPTAN1 Single‑Gene NGS | Closest Alternative – Whole Exome Sequencing (WES) |
|---|---|---|
| Precision (Coverage) | 100% coding region ±10 bp deep coverage | Typically ~97% coding region with lower depth |
| Methodology | Targeted NGS – Full Gene Sequencing | Whole Exome Capture + NGS |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Price (AED) | 2,800 | ~6,000 |
Physician Insight & Safety Protocols
⚠️ Medication Safety Advisory
Do not discontinue prescribed antiepileptic or other medications without explicit instruction from your treating physician. Abrupt withdrawal may trigger rebound seizures or status epilepticus. Always consult your neurologist before any change in therapy.
🚨 Exclusion Criteria & Emergency Red Flags
- No clinical suspicion of EIEE5 or relevant family history – test not indicated.
- Minors (<18 years) require advance parental/legal guardian consent per UAE law.
- Inability to provide a suitable DNA sample (severe anaemia, contraindications to venipuncture).
- If the patient develops status epilepticus, altered consciousness, or breathing difficulties, call 998 (ambulance) immediately.
Patient FAQ & Clinical Guidance
1. What is the SPTAN1 gene test used for?
This test detects mutations in the SPTAN1 gene that cause Early Infantile Epileptic Encephalopathy Type 5, aiding in accurate diagnosis and early intervention. Pathogenic variants in SPTAN1 are linked to infantile‑onset seizures, severe developmental delays, and cerebellar atrophy. A confirmed genetic finding helps clinicians personalise anticonvulsant strategies and provide precise prognostic counselling.
2. How is the sample collected?
A certified phlebotomist collects 2–3 mL of whole blood in an EDTA tube or a few drops on an FTA card, following strict cold‑chain protocols. During a hospital‑grade home visit (available daily 8 AM–11 PM), the procedure is identical to a routine blood draw and carries minimal risk. Extracted DNA from a reliable source can also be submitted with a chain‑of‑custody form.
3. When will I receive my results?
Results are typically available within 3 to 4 weeks from sample accession, including bioinformatics analysis and clinical interpretation. After the report is issued, a telephonic clinical guidance session with our DHA‑licensed consultant medical geneticist can be scheduled to discuss findings and next steps.
UAE Regulatory & Data Privacy Adherence
Compliant with UAE health data protection frameworks:
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring secure handling of your genetic information.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing digital health data exchange.
- Federal Decree‑Law No. 4 of 2016 on Medical Liability – governing patient safety and consent for clinical testing.
- ISO 9001:2015 Certified (Cert No. INT/EGQ/2509DA/3139).
Corporate Lab Branding: DNA Labs UAE
Clinical & Logistical Metadata
| Test Name | SPTAN1 Gene Early Infantile Epileptic Encephalopathy Type 5 Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or FTA Card (Dried Blood Spot) |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full Gene Sequencing |
| ICD‑10‑CM Code | G40.4 |
| LOINC Code | 80772-9 |
| DHA Facility License & Address | DHA License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians