Test Price
2,800 AED✅ Home Collection Available
EXOC8 Gene Joubert Syndrome Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
Diagnostic Accuracy 99.9% – Next‑Generation Sequencing for Joubert Syndrome
- Price: 2,800 AED (all‑inclusive)
- Turnaround Time: 3–4 weeks from sample receipt
- Sample Type: Whole blood (3–5 mL EDTA) or FTA card (dried blood spot)
- Methodology: Whole‑gene NGS (Exome capture) with 100% exon coverage
- Clinical Utility: Confirm diagnosis, guide family counseling, and assess recurrence risk
- Home Collection: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain (daily 8 AM – 11 PM)
Insurance Verification: Direct billing via WhatsApp +971 54 548 8731
Test Overview & Methodology
The EXOC8 Gene Genetic Test detects pathogenic variants in the EXOC8 gene, which cause Joubert syndrome – a rare ciliopathy leading to cerebellar vermis hypoplasia, hypotonia, ataxia, and the characteristic molar tooth sign on MRI. Using Next‑Generation Sequencing (NGS) with whole‑gene capture, this test achieves 99.9% diagnostic sensitivity, enabling precise molecular confirmation and family risk assessment.
| Feature | Our Test (EXOC8 NGS) | Standard Sanger Sequencing |
|---|---|---|
| Precision | 99.9% sensitivity | ~95% coverage |
| Method | NGS (high‑throughput, whole‑gene) | Sanger (limited exon targets) |
| Turnaround | 3–4 weeks | 6–8 weeks |
| Price | 2,800 AED | 4,500 AED |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I recognize the emotional weight of pursuing genetic testing for rare neurodevelopmental syndromes. A positive EXOC8 variant must be correlated with clinical and radiological findings – especially the molar tooth sign – before confirming Joubert syndrome. No medication changes should be made without consulting your primary physician.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory & Safety Notice
⚠️ Do not discontinue prescribed medication without consulting your doctor.
Exclusion Criteria & Emergency Flags
- Individuals under 18 years without legal guardian consent (as per Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Patients with unstable neurological status or acute life‑threatening conditions.
- ER Red Flags: Sudden loss of consciousness, respiratory distress, or new‑onset seizures – seek emergency care immediately.
Patient FAQ & Clinical Guidance
1. What is the indication for the EXOC8 gene test?
The test is indicated when clinical signs such as hypotonia, ataxia, developmental delay, and the molar tooth sign on brain MRI suggest Joubert syndrome. Genetic confirmation is essential for diagnosis, prognosis, and family planning.
2. What is the typical turnaround time for this test?
Results are delivered within 3 to 4 weeks from sample arrival at the laboratory. This period ensures thorough NGS data analysis, bioinformatics processing, and clinical interpretation.
3. Can I provide a dried blood spot instead of a venous blood sample?
Yes, we accept a single drop of blood on an FTA card, extracted DNA, or 3–5 mL whole blood in EDTA. All sample types maintain 99.9% diagnostic accuracy.
4. Is genetic counseling provided after the test?
Yes, telephonic post‑test genetic counseling is included to help you understand the results, recurrence risks, and implications for family members.
UAE Regulatory & Data Privacy Adherence
This test is performed under the regulatory oversight of the Dubai Health Authority (DHA) and complies with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring confidentiality of your genetic and health data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – regulating electronic health records and telemedicine.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – governing informed consent and clinical safety.
Genomic data is stored in encrypted, access‑controlled servers within the UAE. Your results are shared only with you and your referring physician upon explicit consent.
Clinical & Logistical Metadata
| Test Name | EXOC8 Gene Joubert Syndrome Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (3–5 mL EDTA) or FTA card (dried blood spot) |
| Methodology Used | Next‑Generation Sequencing (NGS) – Whole‑gene capture |
| ICD-10-CM Code | Q04.3 (Joubert syndrome) |
| LOINC Code | 31208-2 (Gene mutations identified in Blood or Tissue by Sequencing) |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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