Test Price
2,800 AED✅ Home Collection Available
SIK1 Gene Sequencing for Early Infantile Epileptic Encephalopathy Type 30 (NGS) – Dubai, UAE
Executive Summary & Core Metrics
This next-generation sequencing (NGS) assay targets the SIK1 gene to diagnose early infantile epileptic encephalopathy type 30 (EIEE30), a severe neurodevelopmental disorder with refractory seizures in neonates. The test delivers a diagnostic sensitivity exceeding 99.9% and is performed at DNA Labs UAE (DHA License 1143) under ISO 9001:2015 certification (INT/EGQ/2509DA/3139). Price: 2,800 AED; turnaround time: 3–4 weeks from sample receipt. Sample types: whole blood, extracted DNA, or dried blood spot. Home collection is available daily from 8 AM to 11 PM via VIP mobile phlebotomy with cold-chain logistics. A post-result clinical consultation with our consultant medical geneticist is included.
Test Overview & Methodology
The SIK1 gene sequencing test uses targeted next-generation sequencing to comprehensively analyse the entire coding region of the SIK1 gene. The methodology ensures deep, uniform coverage to detect pathogenic variants associated with EIEE30. Compared to whole exome sequencing (WES), this targeted approach provides faster turnaround, higher sensitivity for SIK1-specific variants, and a focused, actionable clinical report.
| Feature | Our Test – SIK1 Gene NGS | Closest Alternative – Whole Exome Sequencing (WES) |
|---|---|---|
| Methodology | Targeted NGS with deep coverage of the entire SIK1 gene | Whole exome capture covering ~20,000 genes, variable coverage of SIK1 |
| Clinical Precision | >99.9% diagnostic sensitivity for SIK1 pathogenic variants | High overall sensitivity but may miss deep intronic or regulatory SIK1 variants |
| Turnaround Time | 3–4 weeks from sample receipt | 6–12 weeks typically |
| Clinical Report | Focused, actionable report with variant classification and tailored therapeutic implications | Broad report; incidental findings require additional interpretation |
| Cost in UAE | 2,800 AED | ~4,500–6,500 AED |
Physician Insight & Safety Protocols
"As a consultant medical geneticist, I have witnessed the transformative impact of a precise SIK1 diagnosis for children suffering from early-life epilepsy. This targeted NGS test eliminates diagnostic uncertainty, enabling tailored anti-epileptic therapy and informed genetic counselling for the entire family. I emphasise that these results must always be integrated with a complete clinical evaluation by the treating neurologist." — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403.
Medication Advisory
Do not alter or discontinue any prescribed antiepileptic medication without direct medical supervision. Abrupt changes can provoke life‑threatening seizure clusters.
Safety Box – Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Severe coagulopathy, active skin infection at venipuncture site, or inability to provide an adequate blood/DNA sample.
- Emergency Red Flags: Prolonged seizure exceeding 5 minutes, breathing difficulty, bluish lips, or loss of consciousness – call 998 immediately.
- Home collection is deferred if the child is febrile or clinically unstable; rescheduling is arranged at no extra charge.
Patient FAQ & Clinical Guidance
1. What is the purpose of SIK1 gene testing?
SIK1 gene sequencing detects mutations causing early infantile epileptic encephalopathy type 30 (EIEE30). This test confirms the molecular basis of severe, drug‑resistant epilepsy that begins in the first months of life, enabling targeted treatment choices, developmental prognosis, and accurate genetic counselling for the family.
2. How is the sample collected and is home service available?
Home sample collection is conducted by a certified phlebotomist using a cold‑chain kit. We offer VIP mobile phlebotomy across all Emirates from 8 AM to 11 PM. Acceptable samples include whole blood, extracted DNA, or dried blood spot on an FTA card, all handled under ISO‑certified cold‑chain logistics to preserve DNA integrity.
3. How long until I receive my results?
Results are delivered within four weeks of sample receipt, including a detailed clinical interpretation by our medical genetics team. The report clearly classifies any identified variant, its clinical significance, and actionable recommendations. Urgent preliminary verbal updates can be coordinated via WhatsApp with our genetic counselling team.
4. Will my insurance cover this test?
We work with all major UAE insurers. Send your Emirates ID and policy details via WhatsApp to +971 54 548 8731 for direct billing verification and pre‑approval. Many plans cover diagnostic genetic testing with a specialist referral.
UAE Regulatory & Data Privacy Adherence
- Licensed by the Dubai Health Authority (DHA License 1143) and operates 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 clinical testing and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
- ISO 9001:2015 certified facility (Cert: INT/EGQ/2509DA/3139) ensuring standardised laboratory workflows.
- Pediatric sample collection strictly requires written guardian consent; home phlebotomy is deferred for unstable patients per safety protocol.
For insurance pre‑approval or billing queries, send your Emirates ID and policy details to +971 54 548 8731 (WhatsApp). Our team performs direct billing verification with major UAE insurers.
Clinical & Logistical Metadata
| Test Name | SIK1 Gene Sequencing for Early Infantile Epileptic Encephalopathy Type 30 (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Whole blood, extracted DNA, or dried blood spot (FTA card) |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) with deep coverage of the SIK1 gene |
| ICD-10-CM Code | G40.42, G40.89 |
| LOINC Code | 81378-7 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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