Test Price
2,800 AED✅ Home Collection Available
PEX12 Gene Zellweger Syndrome Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين PEX12 لمتلازمة زيلويغر عبر التسلسل الجيني الكامل (NGS) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
ملخص تنفيذي: يقدم هذا التحليل الجيني المتقدم تشخيصًا دقيقًا لطفرات جين PEX12 المسببة لمتلازمة زيلويغر باستخدام تقنية التسلسل الجيني من الجيل التالي (NGS) بحساسية تشخيصية تبلغ 99.9%، مع خدمة سحب دم منزلي فاخرة ومعتمدة بموجب شهادة الآيزو 9001:2015، وإرشادات سريرية هاتفية بعد صدور النتيجة، وتحقق مباشر من التغطية التأمينية.
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- ✈ Premium Logistics: Paid Hospital-Grade Home Collection (ISO Certified Cold-Chain) & VIP Mobile Phlebotomy – 8 AM to 11 PM.
- 📋 Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by a certified genetic counsellor.
- 💰 Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Comprehensive Test Overview
This next-generation sequencing (NGS) test analyzes the entire coding region of the PEX12 gene to identify pathogenic variants associated with Zellweger syndrome, a severe peroxisomal biogenesis disorder. It is the definitive molecular diagnostic tool for confirmation of clinical suspicion and for carrier screening in families, delivering results in 3–4 weeks with 99.9% analytical sensitivity.
| Feature | Our Test (PEX12 NGS) | Closest Alternative (Single Exon Sequencing) |
|---|---|---|
| Methodology | NGS (Illumina platform, 100% coverage) | Sanger sequencing of selected exons |
| Diagnostic Yield | >99% detection of all variant types | ~60-70% (misses deep intronic/copy number variants) |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Clinical Reporting | In-depth variant classification (ACMG) & correlation | Limited to presence/absence of known mutations |
Physician Insight & Safety Protocol
“As a consultant neurologist, I emphasize that a negative PEX12 NGS panel does not exclude the diagnosis of a peroxisomal disorder; clinical correlation with very long-chain fatty acid profiles and neuroimaging remains paramount. Every genetic result must be interpreted within the full clinical picture, and families should receive compassionate, multi-disciplinary counsel.”
— Dr. PRABHAKAR REDDY, DHA License No. 61713011
Medication Warning
Do not discontinue any prescribed medication or modify treatment based solely on this test result without consulting your managing physician. This genetic test complements but does not replace ongoing clinical care.
Exclusion Criteria & ER Red Flags
- Exclusion: Children under 18 years of age must have informed consent from a legal guardian as per UAE CDS Law 2026.
- Exclusion: Recent allogeneic blood transfusion (within 14 days) may affect DNA purity; reschedule after 4 weeks.
- Emergency Red Flags: If the patient develops acute hypotonia, intractable seizures, severe hepatomegaly, or sudden loss of developmental milestones, seek immediate emergency care; do not wait for genetic results.
Frequently Asked Questions
What is the PEX12 genetic test used for?
This test definitively identifies DNA mutations in the PEX12 gene causing Zellweger spectrum disorder, enabling early intervention and family planning decisions.
يُستخدم هذا الاختبار لتحديد الطفرات الجينية في جين PEX12 المسؤولة عن طيف متلازمة زيلويغر، مما يتيح التشخيص المبكر وتخطيط الأسرة.
How is the sample collected and when will I receive my results?
A certified mobile phlebotomist collects a small blood sample (or dried blood spot) at your home; results are delivered securely within 3 to 4 weeks.
يتم سحب عينة دم صغيرة (أو بقعة دم جافة) بواسطة أخصائي سحب دم متنقل في منزلك؛ وتصدر النتائج في غضون 3 إلى 4 أسابيع بشكل آمن.
Is genetic counselling included in this service?
Yes, a pre-test genetic counselling session to draw a detailed family pedigree is mandatory; post- telephonic counselling with a clinical geneticist is included.
نعم، جلسة استشارة وراثية قبل الاختبار لرسم شجرة العائلة إلزامية؛ كما تشمل الخدمة استشارة هاتفية بعد صدور النتيجة مع أخصائي الوراثة السريرية.
⚖ This service complies with UAE Federal Decree-Law No. 41 of 2024 (Art. 87), CDS Law 2026 (Minors), and UAE PDPL data privacy regulations.
🔬 Laboratory ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) – Facility License No. 9834453.
📞 Support & WhatsApp: +971 54 548 8731
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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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