Test Price
2,800 AED✅ Home Collection Available
TCTN3 Gene Joubert Syndrome Type 18 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين TCTN3 لمتلازمة جوبرت النوع 18 في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
🏥 Executive Clinical Assurance
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy (8 AM – 11 PM).
- Clinical Guidance: Complimentary Telephonic Post-Test Clinical Guidance in result interpretation with our DHA-licensed specialists.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
يقدم هذا التحليل الجيني المتقدم لأحدث تشخيص جزيئي لمتلازمة جوبرت النوع 18، مع التزام كامل بقوانين الرعاية الصحية الإماراتية وخصوصية البيانات.
📘 Clinical & Technical Overview
The TCTN3 Gene Joubert Syndrome Type 18 Genetic Test is a comprehensive next-generation sequencing analysis that identifies pathogenic variants in the TCTN3 gene, confirming or ruling out Joubert syndrome type 18—a rare ciliopathy with significant neurological involvement. This test is essential for precise neuro-pediatric diagnosis, genetic counseling, and family planning, delivering actionable results within 3–4 weeks.
تحليل شامل لتحديد الطفرات المسببة في جين TCTN3 المرتبط بمتلازمة جوبرت النوع 18، باستخدام أحدث تقنيات التسلسل الجيني.
| Parameter | Our Test (TCTN3 NGS) | Single-Gene Sanger Sequencing (Alternative) |
|---|---|---|
| Molecular Precision | Full gene coverage (exons, splice sites, deep intronic regions) with uniform read depth | Targeted region sequencing; may miss deep intronic or regulatory variants |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Diagnostic Yield | >99.9% analytical sensitivity for SNVs/indels | ~97%, limited by amplicon design |
| Clinical Utility | Suitable for carrier testing, prenatal confirmation, and VUS resolution | Primarily diagnostic; less suited for comprehensive screening |
| Cost (AED) | 2,800 | 3,500 – 4,200 |
🩺 Physician Insight & Safety Protocol
“As a Senior Clinical Geneticist, I emphasize that the TCTN3 NGS test provides molecular confirmation of Joubert syndrome type 18, but it must always be correlated with the patient’s clinical picture—neuroimaging, developmental milestones, and family history. Never interpret a genetic variant in isolation; a negative result does not exclude the syndrome if clinical suspicion remains high. The test is a powerful tool when used as part of a comprehensive neurometabolic evaluation.” — Dr. PRABHAKAR REDDY, DHA License: 61713011
⚠️ Medication Warning: Do not discontinue prescribed medication without consulting your doctor.
🚨 Patient Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: This test is not indicated for asymptomatic individuals without a family history or clinical suspicion of Joubert syndrome; pre-test genetic counseling is mandatory to ensure informed consent.
- Pre-test Requirement: A documented clinical history and a pedigree chart of affected family members must be provided prior to sample collection.
- Emergency Red Flags: If the patient experiences new-onset seizures, acute respiratory distress, severe hypotonia with feeding difficulties, or unexplained loss of consciousness, seek immediate emergency medical attention. These symptoms may indicate brainstem compression or acute neurological deterioration, which are beyond the scope of this elective genetic test.
❓ Patient FAQ & Clinical Guidance
1. What is the clinical utility of the TCTN3 NGS test for my child’s neurological symptoms?
This provides definitive molecular confirmation of Joubert syndrome type 18 by detecting disease-causing TCTN3 variants, enabling precise neuro-care management, accurate genetic counseling, and informed family planning.
2. كم يستغرق الحصول على نتائج تحليل جين TCTN3 لتشخيص متلازمة جوبرت؟
تستغرق نتيجة التحليل الجيني الكامل لجين TCTN3 باستخدام تقنية NGS من 3 إلى 4 أسابيع، مع دقة تفوق 99.9% في الكشف عن الطفرات المسببة للمرض.
3. Can a negative TCTN3 NGS result completely rule out Joubert syndrome?
A negative result does not exclude the syndrome if other causative genes or copy-number variations are present; clinical evaluation and additional genetic testing may still be warranted.
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