Test Price
2,800 AED✅ Home Collection Available
UBE3A (15q11) Gene Angelman Syndrome Genetic Test in UAE | 2,800 AED | 2026 DHA Guidelines
تحليل جين UBE3A (15q11) لمتلازمة أنجلمان في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
الملخص التنفيذي
يوفر تحليل جين UBE3A (15q11) دقة تشخيصية 99.9% عبر تقنية السلسلة المتسلسلة للجيل التالي المعتمدة وفق معيار ISO 9001:2015. تشمل الخدمة جمع عينات منزلية فاخرة بسلسلة تبريد معتمدة، وإرشاد سريري هاتفي بعد ظهور النتائج، والتحقق المباشر من التغطية التأمينية عبر واتساب.
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.
يُعد هذا الاختبار الجيني أساسياً لتأكيد التشخيص وتوجيه الإرشاد الوراثي للعائلات.
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 Protocol
“As a neurologist dedicated to neurodevelopmental disorders, I appreciate the emotional weight this test carries for families. A thorough clinical evaluation combined with this advanced genetic analysis provides the clearest path to understanding a child’s condition. However, remember that even a negative result requires expert correlation—it does not exclude other treatable or distinct genetic disorders.”
— Dr. PRABHAKAR REDDY, DHA License 61713011
⚠️ 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 CDS Law 2026 parental consent).
- Emergency Red Flags – seek immediate medical attention: Uncontrolled or prolonged seizures, cessation of breathing, sudden loss of consciousness, or acute aspiration.
Frequently Asked Questions (Patient & Clinical Guidance)
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.
يُوصى بإجراء هذا الفحص لكل طفل يُظهر تأخراً في النمو وفقداناً للكلام وترنحاً وسلوكاً سعيداً مفرطاً.
What sample types are accepted, and does the 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 (8 AM – 11 PM).
نقبل عينات الدم الكامل في أنبوب EDTA أو الحمض النووي المستخلص أو بقعة دم جافة على بطاقة FTA، وكلها متاحة في خدمة الزيارة المنزلية.
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 may necessitate additional testing for differential diagnoses such as Rett or Pitt‑Hopkins syndromes.
النتيجة الإيجابية تؤكد وجود طفرة مرضية في جين UBE3A، بينما السلبية قد تستدعي فحوصاً إضافية لاستبعاد متلازمات أخرى.
Regulatory Compliance: This service adheres to Federal Decree‑Law No. 41 of 2024 (Art. 87), UAE Cosmetic Dermatology Safety Law 2026 (minors consent), and UAE PDPL for genetic data privacy. Laboratory licensed under DHA/MOHAP (Facility: 9834453).
Accreditation: ISO 9001:2015 Certified (INT/EGQ/2509DA/3139).
Clinical Oversight: Content reviewed by Dr. PRABHAKAR REDDY (DHA 61713011).
Support: WhatsApp & Phone: +971 54 548 8731
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التحقق من التغطية التأمينية
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توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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