Test Price
2,800 AED✅ Home Collection Available
UBE3B Gene Blepharophimosis-Ptosis-Intellectual Disability Syndrome Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Diagnostic Precision: 99.9% analytical sensitivity and specificity for pathogenic UBE3B variants, achieved through ISO-certified NGS processing.
- Premium Logistics: Hospital-grade home collection via ISO-certified cold-chain logistics. VIP mobile phlebotomy available 8 AM – 11 PM, 7 days a week.
- Clinical Guidance: Complimentary telephonic post-test clinical result interpretation with a DHA-licensed genetic counsellor.
- Insurance & Billing: Direct billing verification and pre‑approval assistance via WhatsApp +971 54 548 8731.
ضمان دقة تشخيصية بنسبة 99.9% عبر معالجة معتمدة وفق ISO. خدمة سحب منزلي على أعلى مستوى مع استشارة جينية هاتفية بعد النتيجة. التحقق من تغطية التأمين عبر الواتساب.
Test Overview & Methodology
The UBE3B gene next‑generation sequencing assay identifies single nucleotide variants, small insertions/deletions and copy number variations within all coding exons and flanking intronic regions, definitively diagnosing Blepharophimosis-Ptosis-Intellectual Disability syndrome (BPID). This targeted NGS test outperforms whole‑exome sequencing in speed and cost, delivering a precise molecular answer for ophthalmology‑genetics patients in only 3–4 weeks.
| Feature | Our Test (UBE3B NGS) | Closest Alternative (WES) |
|---|---|---|
| Target Precision | 100% UBE3B coverage, >200x mean depth | Variable coverage, often <50x for some exons |
| Methodology | Next Generation Sequencing (Illumina® NovaSeq) | Whole‑Exome Sequencing |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Clinical Focus | Single‑gene syndrome (BPID) | Broader search, incidental findings possible |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I understand the anxiety families face when seeking molecular answers for a child’s eyelid anomalies and developmental delay. This UBE3B NGS test delivers the definitive genetic diagnosis for Blepharophimosis-Ptosis-Intellectual Disability syndrome, enabling tailored surveillance, early intervention, and accurate recurrence risk counselling. Always interpret results alongside full clinical evaluation and family history.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory – Medication Safety
Do not discontinue any prescribed medication without consulting your doctor. Genetic test results do not replace ongoing medical care.
Patient Safety – Exclusion Criteria & Red Flags
- Not intended for somatic mosaicism detection if only peripheral blood is submitted. A skin biopsy may be required in some cases.
- Prenatal testing must be preceded by a formal genetic counselling session; never order without prior confirmation of the familial variant.
- ER Red Flags: Sudden loss of vision, new‑onset seizures, or severe feeding difficulties demand immediate emergency care and are not part of this test.
Patient FAQ & Clinical Guidance
1. How accurate is the UBE3B NGS test for diagnosing BPID syndrome?
This test provides a 99.9% analytical accuracy for all UBE3B pathogenic variants, making it the definitive molecular diagnostic for Blepharophimosis‑Ptosis‑Intellectual Disability syndrome. يوفر هذا الاختبار دقة تشخيصية تصل إلى 99.9% لجميع الطفرات الممرضة في جين UBE3B، مما يجعله أداة تشخيص جزيئي نهائي لمتلازمة تدلي الجفون وضيق الشق الجفني مع الإعاقة الذهنية.
2. What sample is required and how is home collection arranged?
A simple blood draw, one drop of blood on an FTA card, or extracted DNA is sufficient; our VIP phlebotomy team visits your home 8 AM‑11 PM daily with cold‑chain transport. يكفي أخذ عينة دم واحدة أو نقطة دم على بطاقة FTA أو حمض نووي مستخلص؛ يقوم فريق سحب الدم المتنقل بزيارة منزلك يومياً من 8 صباحاً حتى 11 مساءً مع نقل مبرد معتمد.
3. Will my health insurance cover the 2800 AED cost?
Most UAE insurers cover Genetic Tests for congenital eye malformations when medically indicated; direct billing verification is completed via WhatsApp at +971 54 548 8731. تغطي معظم شركات التأمين في الإمارات اختبارات التسلسل الجيني لتشوهات العين الخلقية عند وجود دواعٍ طبية؛ ويتم التحقق من تغطية التأمين عبر الواتساب على الرقم 5488731 54 971+.
UAE Regulatory & Data Privacy Adherence
This test is performed under the regulatory framework of the Dubai Health Authority (DHA) and complies 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. Patient confidentiality and clinical safety are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. All data handling conforms to UAE healthcare standards.
Clinical & Logistical Metadata
| Test Name | UBE3B Gene Sequencing (Blepharophimosis-Ptosis-Intellectual Disability Syndrome) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA), FTA card, or extracted DNA; VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available. |
| Methodology Used | Next Generation Sequencing (Illumina® NovaSeq) – full coding exons and flanking intronic regions, >200x mean depth. |
| ICD-10-CM Code | Q87.89 (Other specified congenital malformation syndromes) / Q10.3 (Blepharophimosis) |
| LOINC Code | 92807-8 (UBE3B gene mutation analysis) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – Corporate Lab Branding: DNA Labs UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
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.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians