Test Price
2,800 AED✅ Home Collection Available
CEP152 Gene Seckel Syndrome Type 5 Genetic Test in UAE
| 2800 AED | 2026 DHA Guidelines
تحليل جين CEP152 لمتلازمة سيكل من النوع الخامس بتقنية التسلسل الجيني المتقدم (NGS) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary & Clinical Assurance
ملخص تنفيذي: يوفر هذا الفحص الجيني المتقدم تحليلًا دقيقًا للتسلسل الكامل لجين CEP152 المسؤول عن متلازمة سيكل من النوع الخامس، وذلك بالامتثال الكامل للمرسوم بقانون اتحادي رقم 41 لسنة 2024 في شأن مكافحة الأمراض الوراثية، ولائحة حماية بيانات المرضى (PDPL) لدولة الإمارات، ومعايير هيئة الصحة بدبي (DHA) لعام 2026. يضمن الفحص أعلى درجات الموثوقية السريرية ويُقدَّم من خلال استشارة وراثية شاملة ورعاية متخصصة من أطباء الأطفال وحديثي الولادة.
ISO 9001:2015
INT/EGQ/2509DA/3139
DHA Facility License: 9834453
Test Overview & Genetic Insight
The CEP152 Gene Seckel Syndrome Type 5 NGS Test is a targeted next‑generation sequencing assay that evaluates the full coding sequence of the CEP152 gene to identify pathogenic variants linked to primordial dwarfism and microcephaly. This single‑gene test provides a definitive molecular diagnosis for children and adults with clinical features of Seckel syndrome type 5, enabling precise medical management and family planning.
| Feature | Our Test (CEP152 NGS) | Closest Alternative (WES/WGS) |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity for CEP152 point mutations & small indels | Broader coverage but may miss deep intronic or regulatory variants |
| Methodology | NGS with Illumina® platform, ACMG variant interpretation | Whole Exome / Genome Sequencing; longer bioinformatics pipeline |
| Turnaround Time | 3 – 4 weeks | 6 – 12 weeks typical |
| Cost (AED) | 2800 | 5,000 – 15,000+ |
Physician Insight & Safety Protocol
“As a clinician, I emphasise that this genetic test is a powerful diagnostic tool, but it must always be interpreted alongside a complete physical examination, growth parameters, and neurodevelopmental assessment. A positive result confirms the molecular cause, yet the journey of care for Seckel syndrome requires a multidisciplinary approach. Never alter a child’s treatment plan based on a laboratory report alone.”
— Dr. PRABHAKAR REDDY (DHA: 61713011), Specialist Genetic Medicine
⚠️ Medication Warning
Do not discontinue prescribed medication without consulting your doctor. Genetic results do not replace ongoing clinical management of growth, endocrine, or neurological complications.
🚨 Safety Exclusion Criteria & ER Red Flags
- Exclusion: Active bleeding disorder, severe anaemia, or inability to provide the required sample volume (blood or FTA card).
- Exclusion: Acute febrile illness or systemic infection within 48 hours – reschedule collection.
- Emergency: If the patient experiences sudden neurological deterioration, intractable seizures, or signs of respiratory distress, seek immediate hospital care regardless of test status.
- Paediatric Specific: Home collection for minors (<18) requires legal guardian presence and valid Emirates ID as per UAE CDS Law 2026 provisions on genetic testing in children.
Pre‑Test Requirements & Genetic Counselling
Sample Options
- Whole blood (EDTA tube, 2–5 ml)
- Extracted DNA (≥1 μg, 260/280 ratio 1.8–2.0)
- One drop of blood on FTA card (air‑dried)
Mandatory Clinical History
Provide a detailed clinical summary, including growth charts, dysmorphic features, and family pedigree. A genetic counselling session is strongly recommended to chart affected members and understand inheritance patterns (autosomal recessive).
Testing performed under ISO 9001:2015 certified processes; data privacy governed by UAE PDPL and Federal Decree‑Law No. 41 of 2024 Art. 87.
Patient FAQ & Clinical Guidance
1. What is the CEP152 Gene Seckel Syndrome Type 5 Genetic Test?
Targeted NGS test detecting CEP152 mutations with 99.9% accuracy for Seckel syndrome type 5 diagnosis.
This test reads the entire coding region of the CEP152 gene, known to cause the rare primordial dwarfism disorder Seckel syndrome type 5 when two mutated copies are inherited. It is the most definitive molecular confirmation for patients presenting with proportionate short stature, severe microcephaly, and characteristic “bird‑headed” facies. The assay follows 2026 ACMG guidelines and is performed in a DHA‑licensed facility.
اختبار جيني يستهدف تحليل الطفرات في جين CEP152 بدقة تصل إلى 99.9% لتأكيد تشخيص متلازمة سيكل من النوع الخامس، وهو اضطراب جسدي متنحٍّ نادر يؤدي إلى قصر القامة الشديد وصغر الرأس.
2. How is the sample collected, and what is the turnaround time for results?
Home or clinic blood draw using cold‑chain logistics, with results delivered in 3 to 4 weeks.
A trained mobile phlebotomist visits your location (8 AM – 11 PM, all Emirates) to collect a small blood sample, or you can submit a DNA specimen. Samples are transported under ISO‑certified cold‑chain protocols to our central lab. Sequencing and data analysis require approximately three to four weeks; a preliminary report may be available earlier for urgent cases. All reports are reviewed by a clinical geneticist before release.
يتم سحب العينة في المنزل أو العيادة بواسطة فريق تمريض متنقل، وتُنقل وفق شروط السلسلة الباردة، وتظهر النتائج خلال 3 إلى 4 أسابيع بعد الفحص المخبري الدقيق.
3. Does health insurance cover this genetic in the UAE?
Most UAE insurance plans cover diagnostic genetic testing for suspected Seckel syndrome with prior approval.
Coverage depends on the specific policy and clinical necessity. Our billing team verifies benefits directly with insurers such as Daman, Thiqa, and ADNIC. For self‑pay patients, the cost is 2800 AED inclusive of counselling and report interpretation. Contact +971 54 548 8731 via WhatsApp to receive a verification within one working day.
تغطي معظم خطط التأمين الصحي في الإمارات هذا الفحص الجيني التشخيصي لمتلازمة سيكل بعد الحصول على الموافقة المسبقة. تواصل معنا عبر الواتساب للتحقق من التغطية.
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