Test Price
2,800 AED✅ Home Collection Available
EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين EXOSC3 لتشخيص نقص تنسج المخيخ الجسري النوع 1ب في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
99.9% Diagnostic Sensitivity via ISO 9001:2015 certified NGS platform targeting the full EXOSC3 coding region. This premium molecular assay provides a definitive diagnosis for pontocerebellar hypoplasia type 1B, enabling precise clinical management, family planning, and carrier screening. Includes hospital-grade cold-chain home collection across all emirates (8 AM–11 PM), VIP mobile phlebotomy, and post-test clinical guidance telephonically with a DHA-licensed neurologist.
Insurance & Direct Billing: WhatsApp verification at +971 54 548 8731 prior to service.
الملخص التنفيذي: يوفر هذا الاختبار القائم على التسلسل الجيني من الجيل التالي (NGS) تشخيصًا جزيئيًا دقيقًا لنقص تنسج المخيخ الجسري من النوع 1ب، بحساسية تشخيصية تبلغ 99.9% وفقًا لمعايير هيئة الصحة بدبي لعام 2026. يشمل الخدمة سحب عينات منزلية عالية الجودة بمبرد معتمد، ودعم استشارات بعد النتائج مع استشاري أعصاب معتمد. يتم التحقق المباشر من التأمين عبر واتساب.
Test Overview & Clinical Utility
The EXOSC3 NGS test sequences the entire coding region of the EXOSC3 gene to detect pathogenic variants responsible for pontocerebellar hypoplasia type 1B, a severe autosomal recessive neurodevelopmental disorder presenting with microcephaly, profound developmental delay, and progressive brainstem/cerebellar atrophy. يستخدم هذا الاختبار لتأكيد التشخيص السريري وتوجيه الاستشارة الوراثية والتخطيط العائلي بدقة.
| Feature | Our EXOSC3 NGS Test | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Precision | Single gene deep coverage (100% exon coverage, >99.9% accuracy) | Broad genomic survey with variable depth; may miss deep intronic or regulatory variants specific to EXOSC3 |
| Methodology | NGS (Next Generation Sequencing) with Sanger confirmation of pathogenic findings | NGS Whole Exome Sequencing (WES) |
| Turnaround Time | 3 to 4 Weeks | 6 to 12 Weeks (often longer for informed consent and incidental finding management) |
| Cost Efficiency | AED 2,800 (targeted, no incidental findings) | AED 4,500 – 8,000 (plus counselling for secondary findings) |
| Clinical Actionability | Direct genotype–phenotype correlation for PCH1B; immediate guidance for family planning and surveillance | May generate variants of uncertain significance and incidental findings unrelated to pontocerebellar hypoplasia |
Physician Insight & Safety Protocol
“This test provides molecular confirmation of a devastating pediatric condition; however, a positive result must be integrated with neurological examination and neuroimaging findings to understand the full clinical picture. Families often experience profound distress, and our multidisciplinary team ensures empathetic communication and genetic counselling at every step. I strongly emphasize that clinical correlation is mandatory before any treatment decisions are made.”
— Dr. Prabhakar Reddy, DHA Consultant Neurologist (License: 61713011)
Critical Safety Information
Medication Warning: Do not discontinue any prescribed medication (especially anticonvulsants, antispasticity agents, or respiratory support) without direct consultation with your treating neurologist.
Exclusion Criteria & ER Red Flags
- Patients with an active bleeding disorder or severe coagulopathy are not eligible for home phlebotomy without prior haematology clearance.
- If the child experiences new-onset prolonged seizures, apnoeic episodes, or acute respiratory failure, immediately seek emergency medical care and reschedule test collection.
- This test is not a substitute for urgent inpatient evaluation; always prioritize acute clinical stability.
Frequently Asked Questions (Bilingual)
1. What symptoms indicate I should consider the EXOSC3 gene test for my child?
You should consider this test if your infant presents with progressive microcephaly, severe global developmental delay, and MRI evidence of pontocerebellar hypoplasia after excluding acquired causes.
Additional clues include feeding difficulties, spasticity, central visual impairment, and a positive family history of similar neurodevelopmental regression. The test definitively confirms or excludes a genetic aetiology, guiding prognosis and family planning.
يجب التفكير في هذا الفحص إذا ظهرت على طفلك أعراض صغر الرأس التدريجي، وتأخر النمو الشامل، ودليل التصوير بالرنين المغناطيسي على نقص تنسج المخيخ والجسر. يؤكد الاختبار التشخيص الجيني بدقة.
2. How is the sample collected and what preparation is required?
A DHA-licensed mobile phlebotomist collects a small blood sample (or FTA card finger prick) at your home, with no fasting required; a prior genetic counselling session is mandatory.
We arrange a pedigree charting call before sample collection to document family history. For infants, a heel-stick FTA card collection is a gentle alternative. All samples are transported in ISO-certified cold-chain conditions to our NGS facility.
يتم سحب عينة صغيرة من الدم في المنزل بواسطة ممرض مرخص من هيئة الصحة بدبي، دون الحاجة للصيام، ويشترط عقد جلسة استشارة وراثية قبل السحب لرسم شجرة العائلة.
3. Could this test affect my child’s health insurance coverage in the UAE?
In the UAE, Federal Decree-Law No. 41 of 2024 and PDPL prohibit genetic discrimination by insurers when medically indicated diagnostic tests are performed; your data is fully protected.
All genetic reports are securely stored under UAE data privacy laws, and only shared with explicit consent. Our direct billing verification via WhatsApp ensures transparency with your insurer before testing begins. For minors, the Child Digital Safety Law (CDS 2026) mandates parental consent and restricts data use solely to clinical purposes.
بموجب المرسوم بقانون اتحادي رقم 41 لعام 2024 وقانون حماية البيانات الشخصية، لا تسمح دولة الإمارات بالتمييز التأميني بناءً على الفحوصات الجينية التشخيصية، وبياناتك محمية بالكامل.
Regulatory Compliance & Accreditation
This is performed in accordance with DHA laboratory standards and Federal Decree-Law No. 41 of 2024 (Art. 87).
ISO 9001:2015 Certified Facility – Certificate No: INT/EGQ/2509DA/3139.
CDS Law 2026 (Minors) compliance: all pediatric genetic data handled under parental consent and strict privacy protocols.
Approved by Medical Director Dr. Prabhakar Reddy (DHA: 61713011).
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
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HIPAA
All reports reviewed by DHA-Certified physicians