Test Price
2,800 AED✅ Home Collection Available
SYN1 Gene Epilepsy Test – X‑Linked Genetic Diagnostic Sequencing in UAE
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% clinical sensitivity for coding‑region and splice‑site variants via ISO 9001:2015‑accredited NGS processing.
- Premium Logistics: VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection, 8 AM to 11 PM daily, DHA‑licensed.
- Clinical Guidance: Complimentary post‑test teleconsultation with a board‑certified clinical geneticist for result interpretation.
- Insurance Support: Direct billing verification available – WhatsApp +971 54 548 8731.
Test Overview & Methodology
This single‑gene, full‑coverage Next‑Generation Sequencing (NGS) assay interrogates the entire coding region and canonical splice sites of the SYN1 gene to detect pathogenic single‑nucleotide variants, small insertions/deletions, and copy‑number variants. SYN1 encodes synapsin I, a neuronal phosphoprotein essential for synaptic vesicle docking and neurotransmitter release. Loss‑of‑function mutations cause X‑linked epilepsy, often co‑occurring with learning disabilities, autism spectrum features, and behavioural disorders.
The test is indicated for children and adults presenting with unexplained epileptic encephalopathy, developmental delay, intellectual disability, or a confirmed family history of X‑linked neurodevelopmental disorders. A definitive molecular diagnosis guides targeted antiseizure medication selection, genetic counselling, and cascade screening of at‑risk relatives.
| Feature | OUR TEST SYN1 NGS | Closest Alternative – Epilepsy Gene Panel |
|---|---|---|
| Methodology | NGS – Full Gene Sequencing + CNV Detection | NGS Panel (50–500 genes) |
| Clinical Focus | SYN1‑specific, high diagnostic yield for X‑linked phenotype | Broad neurological panel; may miss deep intronic or copy‑number variations in SYN1 |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
| Price | 2,800 AED | 3,200–4,500 AED |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403: “A molecular diagnosis of SYN1‑related epilepsy provides a definitive aetiological basis that can reshape both medical management and family counselling. The variant must always be correlated with the electroclinical phenotype, inheritance pattern, and neuroimaging data. I strongly advise pre‑test genetic counselling so that caregivers understand the spectrum of possible outcomes, the implications for reproductive planning, and the importance of periodic neurodevelopmental reassessment.”
⛔ Critical Safety Advisory
Never discontinue, reduce, or modify prescribed antiseizure medication before or after this genetic test without explicit instruction from your treating neurologist. Abrupt withdrawal may precipitate life‑threatening seizure recurrence or status epilepticus. This test provides diagnostic information; it does not replace clinical judgement or emergency care.
🚨 Exclusion Criteria – Emergency Red Flags
Home phlebotomy is strictly contraindicated if any of the following are present:
- Active status epilepticus or any seizure lasting >5 minutes
- Signs of elevated intracranial pressure (severe headache, projectile vomiting, vision changes)
- Altered consciousness, acute encephalopathy, or Glasgow Coma Scale <15
- Suspected or confirmed central nervous system infection with unstable vital signs
- Inability to provide a reliable clinical history or obtain informed consent from the patient or legal guardian
If any of these criteria are met, proceed immediately to the nearest hospital emergency department.
Patient FAQ & Clinical Guidance
1. What exactly does the SYN1 gene test analyze, and how is the sample collected?
This test uses next‑generation sequencing to read the entire coding sequence and intron‑exon boundaries of the SYN1 gene. It identifies pathogenic variants that disrupt synapsin I function, leading to X‑linked epilepsy, learning disabilities, and behavioural disorders. The preferred specimen is a peripheral whole‑blood draw (2–4 mL EDTA tube), from which high‑molecular‑weight DNA is extracted. Alternatively, an extracted DNA sample or a dried blood spot collected via finger‑prick microsampling device may be accepted. A DHA‑licensed phlebotomist performs the blood draw at our facility or during a scheduled home visit.
2. Is home sample collection available across the UAE, and how long do results take?
Yes, VIP mobile phlebotomy is available seven days a week from 8 AM to 11 PM across all seven emirates. The sample is transported under a continuous temperature‑controlled cold chain to our ISO‑accredited laboratory. The standard turnaround time from sample receipt to final clinical report is 3 to 4 weeks. Every report is accompanied by a complimentary teleconsultation with a consultant medical geneticist to explain the findings and recommend next clinical steps.
3. What should I do if the test finds a SYN1 mutation?
A positive result confirms the molecular diagnosis of SYN1‑related X‑linked epilepsy. This information allows your neurologist to tailor antiseizure therapy, anticipate co‑morbid neurodevelopmental challenges, and initiate targeted educational and behavioural support. The report also includes a recommendation for formal genetic counselling to discuss recurrence risks, reproductive options, and cascade testing for at‑risk female carriers in the family. You will receive a direct telephonic consultation with our clinical geneticist to integrate the result into your overall care plan.
UAE Regulatory & Data Privacy Adherence
🔒 Data Protection & Healthcare Compliance
All genetic testing services at DNA Labs UAE operate 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. Clinical safety and patient consent procedures adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. Genetic data is encrypted, access‑controlled, and stored exclusively on DHA‑compliant servers within the UAE. No raw sequence data is shared with third parties without explicit written consent. The laboratory holds DHA Facility License No. 1143 and is audited annually for ISO 9001:2015 certification.
Clinical & Logistical Metadata
| Test Name | SYN1 Gene Sequencing – X‑Linked Epilepsy & Learning Disabilities Panel |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks from sample receipt |
| Sample Type / Matrix | Peripheral whole blood (EDTA), extracted DNA, or dried blood spot |
| Methodology Used | Next‑Generation Sequencing (NGS) – full gene coverage + CNV analysis |
| ICD‑10‑CM Code | G40.89 (Other epilepsy), F70 (Mild intellectual disabilities) |
| LOINC Code | 81247-9 (Master HL7 genetic variant reporting panel) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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