Test Price
2,800 AED✅ Home Collection Available
STXBP1 Gene (Early Infantile Epileptic Encephalopathy Type 4) Genetic Test in UAE
Executive Summary & Core Metrics
Analytical Assurance: Diagnostic sensitivity exceeding 99.9% achieved through ISO-accredited Next-Generation Sequencing (NGS) with orthogonal Sanger confirmation for all clinically actionable variants detected in the STXBP1 coding region.
Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM, with ISO-compliant specimen transport and secure chain of custody.
Clinical Guidance: Post-test telephonic consultation with a Consultant Medical Genetics specialist to facilitate result interpretation and coordinate multidisciplinary care planning.
Insurance Verification: Direct insurance coverage confirmation via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This targeted genetic test analyses the entire coding region and splice-site boundaries of the STXBP1 gene using Next-Generation Sequencing (NGS) to detect pathogenic mutations responsible for early infantile epileptic encephalopathy type 4 (EIEE4), a severe neonatal-onset epileptic disorder. The assay achieves comprehensive coverage with analytical sensitivity greater than 99.9% for single nucleotide variants and small insertions or deletions, providing clinicians with definitive molecular confirmation to guide tailored antiseizure therapy and family genetic counselling.
| Feature | Our Test – STXBP1 Targeted NGS | Closest Alternative – Whole Exome Sequencing (WES) |
|---|---|---|
| Precision / Analytical Sensitivity | >99.9% for coding STXBP1 regions | ~98% overall exome; may miss deep intronic variants |
| Methodology | NGS + Sanger confirmation | NGS exome capture, often without reflex confirmation |
| Turnaround Time | 3–4 weeks | 4–12 weeks |
| Clinical Utility | Focused diagnosis without incidental findings | High chance of incidental or secondary findings |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I recognise the profound emotional weight that families carry when confronting early-onset seizures in a newborn. This targeted STXBP1 assay offers definitive molecular confirmation while minimising the discovery of unrelated incidental findings. However, results must always be contextualised within the full clinical picture — a negative report does not exclude the diagnosis, and essential multidisciplinary care should never be delayed pending genetic test results. Pre-test and post-test genetic counselling are indispensable components of this diagnostic pathway.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue, adjust, or initiate any anti-epileptic medication or treatment regimen without direct consultation with the child's managing paediatric neurologist. This genetic test is a diagnostic tool and does not replace acute seizure management or emergency medical intervention.
Safety Exclusion Criteria & Clinical Red Flags
- Not suitable as an emergency or stat test; specimen collection must be performed in a stable clinical setting.
- Pre-test genetic counselling with a completed three-generation family pedigree chart is mandatory before sample submission.
- If the infant experiences a prolonged seizure lasting more than five minutes, status epilepticus, respiratory distress, or altered consciousness, call 998 immediately or proceed to the nearest emergency department.
- Test results are invalid if the patient has received a leukocyte or whole blood transfusion within the preceding 14 days.
- Acceptable specimen types: peripheral whole blood in EDTA, extracted genomic DNA (minimum 2 µg), or a single dried blood spot on an FTA card.
Patient FAQ & Clinical Guidance
1. What is the STXBP1 NGS test and why is it ordered?
This targeted genetic test identifies pathogenic mutations in the STXBP1 gene to confirm a diagnosis of early infantile epileptic encephalopathy type 4. It is ordered for infants presenting with early-onset seizures, developmental delay, and epileptic encephalopathy of unknown aetiology, guiding tailored antiseizure medication selection and providing recurrence risk information for family planning.
2. How is the sample collected and is it painful?
A small venous blood sample (2–3 mL in EDTA) is drawn by a trained paediatric phlebotomist. For newborns, a heel-stick capillary sample on an FTA card may be used. Discomfort is minimal and comparable to routine blood draws. Paediatric topical anaesthetic cream can be applied upon request before venipuncture. VIP mobile phlebotomy for home collection is available daily from 8 AM to 11 PM.
3. What preparation is required before the test?
No fasting or special dietary preparation is needed. However, a mandatory pre-test genetic counselling session must be completed before sample collection. Please bring any previous medical records, neuroimaging reports, electroencephalography (EEG) results, and a completed family pedigree chart provided by the referring physician or genetic counsellor.
4. How long does it take to receive results and how are they delivered?
The standard turnaround time is three to four weeks (21–28 business days) from sample receipt at the laboratory. Results are delivered via a secure encrypted portal and a hard copy signed by the Consultant Medical Genetics specialist. A post-test telephonic consultation is scheduled to help interpret the report and discuss next steps in clinical management.
5. Is home sample collection available and what is the coverage area?
Yes, VIP mobile phlebotomy and temperature-controlled cold-chain home collection is available across all seven emirates of the UAE. Service hours are daily from 8 AM to 11 PM, including public holidays. Our phlebotomists are fully trained in paediatric and neonatal blood collection techniques and follow strict infection control and chain-of-custody protocols.
UAE Regulatory & Data Privacy Adherence
This clinical testing service operates in full compliance with the 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 patient data, including genetic information, is processed with stringent encryption, access controls, and strict confidentiality safeguards. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. All specimens are processed exclusively within DNA Labs UAE's ISO 9001:2015 certified facility under DHA Facility License Number 1143.
Clinical & Logistical Metadata
| Test Name | STXBP1 Gene (Early Infantile Epileptic Encephalopathy Type 4) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (21–28 Business Days) |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted Genomic DNA, or FTA Card Dried Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) with Orthogonal Sanger Confirmation |
| ICD-10-CM Code | G40.4 |
| LOINC Code | 94058-8 |
| 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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