Test Price
2,800 AED✅ Home Collection Available
CPLANE1 Gene (Joubert Syndrome Type 17) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين CPLANE1 (متلازمة جوبيرت النوع 17) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary / الملخص التنفيذي
يوفر هذا التحليل الجيني الشامل باستخدام تقنية التسلسل الجيني المتقدم (NGS) تشخيصًا دقيقًا لمتلازمة جوبيرت النوع 17 الناتجة عن طفرات جين CPLANE1، بدقة تشخيصية تبلغ 99.9% عبر مختبر معتمد بشهادة ISO 9001:2015، مع خدمة سحب منزلي متميزة وإرشاد سريري.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited Processing.
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO-Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in Result Interpretation.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
ICD-10-CM: Q04.3 (Joubert syndrome), Z13.71 (Carrier screening), Z13.79 (Screening for genetic disorder). LOINC: 48006-4 (CPLANE1 gene mutation analysis).
Overview / نظرة عامة
The CPLANE1 gene sequencing test by next-generation sequencing (NGS) identifies pathogenic variants in the CPLANE1 gene responsible for Joubert syndrome type 17, a rare neurodevelopmental disorder featuring cerebellar vermis hypoplasia. Our UAE-based, ISO-certified molecular diagnostics lab delivers a definitive diagnosis with expert genetic counseling to guide management and family planning.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) with High Coverage | Sanger Sequencing (limited to known mutations) |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Diagnostic Sensitivity | >99.9% for SNVs and CNVs | ~98% (misses large deletions) |
| Post-Test Support | Included clinical geneticist interpretation | Often additional fee for counseling |
Physician Insight & Safety Protocol
A Note from Dr. PRABHAKAR REDDY (DHA: 61713011), Clinical Geneticist
Understanding your child’s neurodevelopmental challenges begins with a precise molecular diagnosis. As a clinical geneticist, I ensure that your CPLANE1 sequencing result is interpreted with the utmost empathy, always in the context of a full clinical evaluation and genetic counseling session, so that your family receives clear, actionable steps for management and support.
⚠️ Medication Warning
Do not discontinue prescribed medication without consulting your doctor.
Safety Exclusion Criteria & Emergency Red Flags
- Individuals experiencing acute neurological decline (profound hypotonia, seizures, respiratory distress) must first seek emergency care; this genetic is for elective diagnostic purposes.
- Patients with bleeding disorders or difficult venous access require prior evaluation by a pediatric phlebotomy team.
- If the patient develops new-onset severe apnea or loss of consciousness, proceed to the nearest emergency department immediately.
Patient FAQ & Clinical Guidance
1. What does a positive CPLANE1 result mean for my child’s health?
A positive result confirms Joubert syndrome type 17, enabling early neurological intervention, developmental therapies, and accurate family genetic counseling to reduce recurrence risk.
2. How is the genetic sample collected, and will it hurt my baby?
A trained pediatric phlebotomist performs a gentle venipuncture or a painless finger‑prick onto an FTA card, minimizing discomfort and ensuring a safe collection for infants and young children.
3. هل تغطي التأمينات هذا الفحص وما هي التكلفة الإجمالية؟
يمكنك التواصل عبر واتساب على الرقم +971545488731 للتحقق من تغطية تأمينك، وقد تُغطى التكلفة كليًا أو جزئيًا؛ وفي حال عدم التغطية تبلغ رسوم الفحص 2800 درهمًا إماراتيًا شاملة الاستشارة الوراثية.
Regulatory Compliance
This genetic testing service strictly adheres to UAE Federal Decree-Law No. 41 of 2024 on Medical Liability (Art. 87), UAE PDPL for genomic data privacy, and the Child Protection Law 2026 regarding testing of minors. All procedures follow the highest ISO 9001:2015 quality standards (Cert: INT/EGQ/2509DA/3139).
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