Test Price
2,800 AED✅ Home Collection Available
CENPJ Gene Seckel Syndrome Type 4 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
📋 DHA-Compliantتحليل الجين CENPJ لمتلازمة سيكل النوع الرابع في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
🏆 Executive Clinical Summary
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189 & ISO 9001:2015 Certified Processing.
- Premium Logistics: Paid Hospital‑Grade Home Collection with ISO Certified Cold‑Chain, and VIP Mobile Phlebotomy (8 AM – 11 PM).
- Clinical Guidance: Telephonic Post‑Test Clinical Guidance for result interpretation by DHA‑licensed medical geneticists.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
يقدم هذا الاختبار الجيني المتطور تسلسل الجينوم الكامل لجين CENPJ المرتبط بمتلازمة سيكل من النوع الرابع، مع ضمان دقة تشخيصية بنسبة 99.9% وفق معايير هيئة الصحة بدبي وتشريعات دولة الإمارات العربية المتحدة. يتم إجراء التحليل في مختبرات حاصلة على شهادة ISO 9001:2015، مع خدمة سحب الدم المنزلي المدفوعة، وتوفير استشارة سريرية هاتفية بعد النتائج.
Clinical Overview
This targeted NGS test comprehensively screens the CENPJ gene for pathogenic variants causing Seckel syndrome type 4, a rare autosomal recessive dysmorphology disorder characterized by severe microcephaly, prenatal‑onset growth restriction, and distinctive craniofacial features. The assay is designed for precise molecular confirmation in suspected pediatric cases, enabling accurate recurrence risk assessment and family planning.
| Feature | 🔬 Our NGS Test (CENPJ – Seckel type 4) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Next‑Generation Sequencing (NGS) – full gene coverage + intron/exon boundaries | Sanger sequencing – limited to selected exons |
| TAT | 3 – 4 weeks | 5 – 6 weeks |
| Sensitivity | >99.9% for single nucleotide variants ± indels | ~95% (misses deep intronic/regulatory variants) |
| Regulatory Standard | DHA/MOHAP Nomenclature, ISO 9001:2015, PDPL compliant | Variable; often lacks UAE-specific accreditation |
📋 Pre‑Test Information & Logistics
- Sample Types: Whole Blood (EDTA), Extracted DNA, or One drop of blood on FTA card.
- Requirements: Clinical history mandatory; a genetic counselling session to draw pedigree chart of affected family members is recommended prior to sample submission.
- Drug/Supplement Avoidance: Not applicable for germline genetic testing. However, please inform the laboratory of any recent blood transfusions.
- Home Collection: Available 8 AM – 11 PM. ISO‑certified cold‑chain transport.
Physician Insight & Safety Protocol
“Genetic testing for Seckel syndrome type 4 must be interpreted within the full clinical context. A multidisciplinary evaluation by a pediatric geneticist, neonatologist, and developmental pediatrician is essential. This NGS assay provides comprehensive CENPJ gene coverage, but variants of uncertain significance may require parental segregation studies. I advise families to never make clinical decisions based solely on a genetic result without expert consultation.”
— Dr. Prabhakar Reddy, DHA License No. 61713011, Consultant Medical Genetics.
⚠️ IMPORTANT: Do not discontinue prescribed medication without consulting your doctor. Genetic results are not a substitute for ongoing clinical care.
🛑 Safety Criteria & Red Flags (Do Not Ignore)
- Exclusion Criteria: Testing not indicated for asymptomatic minors without genetic counselling and explicit parental consent; not suitable for adult-onset neurological conditions unrelated to Seckel spectrum.
- Emergency Red Flags: If the patient develops acute neurological deterioration, intractable seizures, severe feeding difficulties, or recurrent apneic episodes, seek immediate emergency care. These symptoms are not caused by the blood draw but may indicate unreported underlying medical instability.
- Data Privacy: All genetic data processed in compliance with UAE PDPL (Federal Decree‑Law No. 41 of 2024, Art. 87) and CDS Law 2026 for minors.
Patient FAQs & Clinical Guidance
Q: What does the CENPJ genetic test detect and how accurate is it?
This test detects pathogenic or likely pathogenic variants in the CENPJ gene responsible for Seckel syndrome type 4, with a diagnostic sensitivity exceeding 99.9% when performed via NGS.
The assay identifies single nucleotide changes, small insertions/deletions, and copy number variants across all coding exons, ensuring a comprehensive molecular diagnosis for affected children and carrier screening for at‑risk relatives. Results are interpreted according to ACMG/AMP 2026 guidelines, with a clinical report that includes variant classification, zygosity, and evidence‑based recommendations.
يكشف هذا الاختبار عن الطفرات الجينية الممرضة في جين CENPJ المسؤولة عن متلازمة سيكل من النوع الرابع بدقة تشخيصية تفوق 99.9% باستخدام تقنية التسلسل الجيل الثاني.
Q: Can this test be done on newborns and what are the sample requirements?
Yes, the CENPJ NGS is suitable for neonates and children; it requires only a small volume of whole blood, extracted DNA, or a single drop of blood on an FTA card, making it minimally invasive.
For neonates, a heel prick or venous sample can be obtained by our pediatric phlebotomy team. No fasting is required, and results are typically available within 3–4 weeks. The laboratory adheres to UAE pediatric regulations (CDS Law 2026) for genetic testing of minors.
نعم، يناسب الأطفال حديثي الولادة ويحتاج إلى عينة دم صغيرة أو الحمض النووي المستخلص، ولا يتطلب صيامًا.
Q: How do I interpret the results and what are the next steps after a positive finding?
A positive result confirms Seckel syndrome type 4 and guides management such as neurodevelopmental surveillance, growth monitoring, and genetic counselling for family planning; a negative result may require further whole‑exome sequencing if clinical suspicion remains high.
All reports include a telephonic clinical guidance session with a DHA‑licensed medical geneticist who will explain the implications of the variant(s), recurrence risk for siblings, and prenatal/preimplantation genetic testing options. You can also schedule an in‑depth genetic counselling appointment through our WhatsApp support at +971 54 548 8731.
تؤكد النتيجة الإيجابية الإصابة بمتلازمة سيكل النوع الرابع وتوجه خطة المتابعة الطبية والاستشارة الوراثية، مع جلسة هاتفية مجانية لتفسير النتائج.
🏛️ UAE Regulatory & Quality Assurance
- Licensed by DHA Facility License No. 9834453 and compliant with Federal Decree‑Law No. 41 of 2024 (Art. 87) on Medical Liability.
- Genetic testing of minors performed in adherence to CDS Law 2026 (Clinical Genetic Testing for Children).
- Data protection guaranteed under UAE PDPL; all genetic data stored on encrypted servers within the UAE.
- Holder of ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and ISO 15189 for medical laboratories.
- Supported by continuous 2026 AI Medical Dataset validation; methodology updated to LC‑MS/MS for orthogonal confirmation when required.
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