Test Price
2,800 AED✅ Home Collection Available
SYNGAP1-Related Intellectual Disability (Autosomal Dominant Type 5) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Clinical & Service Executive Summary
- Diagnostic Accuracy: 99.9% analytical sensitivity and specificity via ISO‑certified NGS processing with Sanger confirmation of pathogenic calls.
- Premium Logistics: Hospital‑grade ISO cold‑chain home collection (Dubai, Abu Dhabi, Sharjah, all Emirates) and VIP mobile phlebotomy service, 8 AM – 11 PM daily.
- Clinical Guidance: Complimentary post‑test telephonic clinical interpretation with a board‑certified genetic counsellor.
- Insurance & Billing: Direct billing verification and pre‑approval support via WhatsApp at +971 54 548 8731.
- Price: 2800 AED all‑inclusive. No hidden fees.
- Turnaround Time: 3–4 weeks from sample receipt.
Test Overview & Methodology
The SYNGAP1 gene test utilises Next Generation Sequencing (NGS) to detect pathogenic variants in the SYNGAP1 gene, which is strongly associated with autosomal dominant intellectual disability type 5 (also termed SYNGAP1‑related developmental and epileptic encephalopathy). This investigation is the only definitive method to confirm the molecular diagnosis, guide targeted surveillance for associated epilepsy and autism spectrum disorder, and inform family recurrence risk. The methodology uses whole‑gene sequencing with deep intronic coverage and Sanger confirmation of all pathogenic calls.
| Feature | Our Test (SYNGAP1 NGS) | Closest Alternative (Chromosomal Microarray / CMA) |
|---|---|---|
| Precision Target | Single‑nucleotide variants, indels in SYNGAP1 with 99.9% sensitivity | Copy number variants only; misses ~85% of SYNGAP1 point mutations |
| Methodology | NGS with Sanger confirmation of pathogenic calls | Oligonucleotide array CGH |
| Turnaround Time | 3–4 weeks | 5–6 weeks |
| Cost (UAE) | 2800 AED | ~3500 AED |
Physician Insight & Safety Protocols
Clinical Commentary by Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA: 9294403)
“While this NGS assay provides critical molecular confirmation, clinical correlation with developmental history and EEG findings remains essential. A negative result does not rule out other genetic aetiologies, and variant re‑classification may occur as knowledge evolves. Families should receive comprehensive genetic counselling before and after testing.”Advisory: Medication Safety & Clinical Management
Do not discontinue any prescribed medication (including antiepileptic drugs) without consulting your treating physician. This test does not replace ongoing neurological management.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Known haematological disorder contraindicating venepuncture; inability to provide informed consent for genetic testing as per UAE Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- ER Red Flags: Seek immediate medical attention if the patient develops new‑onset seizures, prolonged altered consciousness, or severe behavioural regression while awaiting results.
Patient FAQ & Clinical Guidance
1. What is the SYNGAP1 gene test, and why is it ordered?
This test sequences the entire coding region of the SYNGAP1 gene to identify pathogenic mutations causing intellectual disability and epilepsy. It is ordered when a child presents with global developmental delay, early‑onset epilepsy, or autistic features with a family history suggestive of autosomal dominant inheritance.
2. How much does the SYNGAP1 NGS cost in Dubai / UAE, and is it covered by insurance?
The all‑inclusive price is 2800 AED; we offer direct insurance verification and can provide pre‑approval documentation before sample collection. Contact us on WhatsApp at +971 54 548 8731 for a personalised benefits check.
3. What sample types are accepted, and how should the child be prepared?
We accept peripheral whole blood (3 mL EDTA), extracted DNA, or a single drop of blood on an FTA card. A mandatory genetic counselling session to chart the family pedigree is arranged before sample collection. No special preparation is required; however, inform the phlebotomist if the child is on any anticoagulants.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Law Compliance: This service fully adheres to 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 comply with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Quality Accreditation: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). Laboratory facility license: DHA 1143.
Support & Booking: Phone / WhatsApp +971 54 548 8731 (8 AM – 11 PM, daily). Direct billing verification available.
Clinical & Logistical Metadata
| Test Name | SYNGAP1 Gene Sequencing (NGS) – Autosomal Dominant Intellectual Disability Type 5 |
| Price (AED) | 2800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card). VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily 8 AM – 11 PM. |
| Methodology Used | Next Generation Sequencing (NGS) with Sanger confirmation of all pathogenic variants; covers coding exons and flanking intronic regions. |
| ICD-10-CM Code | F78.A (Intellectual disability, autosomal dominant type 5), G40.89 (Other seizures) |
| LOINC Code | 90396-6 (SYNGAP1 gene full sequencing) |
| DHA Facility License & Laboratory Address Invariants | DNA Labs UAE – DHA Facility License Number: 1143. Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. |
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