Test Price
2,800 AED✅ Home Collection Available
UBE3A (15q11) Gene Angelman Syndrome Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
Test Overview & Methodology
Comprehensive Genetic Diagnosis for Angelman Syndrome
The UBE3A (15q11) Angelman Syndrome NGS test analyses the entire UBE3A gene on chromosome 15 using next‑generation sequencing to detect deletions, point mutations, and imprinting defects. This definitive molecular test enables precise diagnosis of Angelman syndrome, a severe neurodevelopmental disorder characterised by intellectual disability, absent speech, ataxia, and a distinctive happy demeanor.
Test Comparison: NGS vs. Traditional Methods
| Feature | Our Test (NGS + Sanger Confirmation) | Traditional PCR / FISH |
|---|---|---|
| Detection Scope | Full UBE3A gene, small variants, deletions, UPD | Only common large deletions |
| Diagnostic Yield | >99% for all molecular classes | ~70% (misses point mutations) |
| Turnaround Time | 21–28 calendar days (3–4 weeks) | 4–8 weeks |
| Methodology | Next‑Generation Sequencing (NGS) with Sanger validation | Methylation‑specific PCR, FISH |
| ISO Accreditation | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | Varies |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I understand the profound emotional journey families undergo when seeking a diagnosis for Angelman syndrome. This comprehensive NGS test offers the highest diagnostic clarity, yet it must always be correlated with thorough clinical evaluation. A negative result does not exclude other treatable neurodevelopmental disorders, and expert genetic counselling remains essential.”
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
⚠️ Critical Medication & Clinical Warning
Do not discontinue any prescribed anti‑epileptic, behavioural, or neurodevelopmental medication without consulting your supervising physician. Abrupt changes may precipitate seizure exacerbation or severe withdrawal symptoms.
🚨 Exclusion Criteria & Emergency Red Flags
- Exclusion: Hematopoietic stem cell transplant within 4 weeks (donor DNA may confound results).
- Exclusion: Inability to provide informed consent by legal guardian (for minors, mandatory consent as per Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Emergency Red Flags – seek immediate medical attention: Uncontrolled or prolonged seizures, cessation of breathing, sudden loss of consciousness, or acute aspiration.
Patient FAQ & Clinical Guidance
1. Who should undergo the Angelman syndrome NGS test?
This is indicated for any child presenting with developmental delay, absent or minimal speech, movement or balance disorder (ataxia), and a characteristic happy, excitable demeanor—features pathognomonic of Angelman syndrome. A thorough clinical evaluation by a neurologist or geneticist is recommended prior to testing.
2. What sample types are accepted, and does home collection cover all?
We accept whole blood (EDTA tube), extracted genomic DNA, or a dried blood spot on an FTA card—allowing flexible, minimally invasive collection for paediatric patients during our VIP home visit, available daily from 8 AM to 11 PM via our temperature-controlled cold-chain logistics.
3. How are results interpreted, and what does a negative report mean?
A positive report identifies a pathogenic variant in UBE3A or abnormal methylation pattern, confirming Angelman syndrome. A negative NGS result does not completely exclude the diagnosis—further testing for differential diagnoses such as Rett, Pitt‑Hopkins, or other imprinting disorders may be necessary. Our genetic counsellors provide detailed interpretation and guidance.
UAE Regulatory & Data Privacy Adherence
Compliance Framework: This service operates under the following legal instruments for health data and genetic privacy:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing patient genetic data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – ensuring safe digital data handling.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – governing informed consent and clinical responsibility.
Laboratory licensed under DHA Facility License No. 1143 and operated by DNA Labs UAE. All genetic test results are handled with strict confidentiality and encrypted storage in compliance with UAE data protection law.
Clinical & Logistical Metadata
| Test Name | UBE3A (15q11) Gene Angelman Syndrome Genetic Test – NGS & Sanger Confirmation |
| Price (AED) | 2,800 |
| Turnaround Time | 21–28 calendar days (3–4 weeks) |
| Sample Type / Matrix | Whole blood (EDTA), extracted genomic 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, ISO 9001:2015 accredited (Cert: INT/EGQ/2509DA/3139) |
| ICD-10-CM Code | Q93.5 (Angelman syndrome) |
| LOINC Code | 61896-3 (UBE3A gene mutation analysis) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians