Test Price
2,800 AED✅ Home Collection Available
EXOSC8 Gene (Joubert Syndrome) Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Next-Generation Sequencing (NGS) Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across all UAE emirates.
- Clinical Guidance: Post-test telephonic genetic counseling session with our Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This Next-Generation Sequencing (NGS) test comprehensively analyzes the EXOSC8 gene for pathogenic variants causative of Joubert syndrome, a rare neurodevelopmental disorder characterized by cerebellar ataxia, hypotonia, and intellectual disability. The test is performed on peripheral whole blood or saliva samples and provides full gene coverage including intronic regions, ensuring high diagnostic yield for molecular confirmation.
| Feature | Our NGS Test | Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% sensitivity for EXOSC8 variants via high-depth NGS | ~95% single-gene, may miss deep intronic variants |
| Method | Next-Generation Sequencing (NGS) – full gene coverage including introns | Sanger (capillary electrophoresis) – limited coding regions |
| Turnaround Time | 3–4 Weeks (DHA-accredited local lab) | 4–6 Weeks (often sent outside UAE) |
| Bioinformatics | In-house UAE pipeline aligned to ACMG guidelines | Third-party analysis, potential delays |
Physician Insight & Safety Protocols
"As a Consultant Medical Geneticist, I emphasize that genetic test results must be interpreted within the full clinical and family context. This NGS analysis provides robust molecular evidence for Joubert syndrome, yet it should complement — not replace — clinical evaluation and counseling. Patients are encouraged to schedule a post-test genetic counseling session to review implications for themselves and at-risk relatives."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue prescribed medication without consulting your doctor. Genetic results are not a substitute for ongoing clinical management. Always discuss medication changes with your treating physician.
Exclusion Criteria & Safety Warnings
Not suitable for patients who have undergone allogeneic bone marrow transplant or recent blood transfusion (within 2 weeks) that may affect DNA purity. In such cases, alternative sample types (buccal swab) must be discussed with our laboratory prior to booking.
Emergency Red Flags: If the patient experiences severe psychological distress or suicidal ideation after receiving results, contact emergency services (998 in UAE) or your treating physician immediately.
Patient FAQ & Clinical Guidance
1. What does the EXOSC8 gene test diagnose?
This NGS test detects disease-causing EXOSC8 mutations associated with Joubert syndrome, a ciliopathy causing cerebellar malformation. The result guides prognosis and genetic counseling for families in the UAE. It is performed on a blood or saliva sample.
2. How long do results take and how are they delivered?
Results are available within 3 to 4 weeks via secure encrypted PDF and include a clear clinical interpretation. An optional telephonic genetic counseling session is provided with every report.
3. Can I get this test done at home in Dubai or Abu Dhabi?
Yes, our VIP mobile phlebotomy service provides hospital-grade home sample collection across all UAE emirates, including Dubai and Abu Dhabi, with strict cold-chain compliance. Service is available daily from 8 AM to 11 PM.
UAE Regulatory & Data Privacy Adherence
This genetic test is performed in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. All clinical procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability ensuring patient safety and informed consent. Your data is encrypted, stored within secure UAE servers, and never shared without explicit authorization.
Clinical & Logistical Metadata
| Test Name | EXOSC8 Gene Sequencing for Joubert Syndrome – NGS |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA Vacutainer) / Saliva (Buccal Swab) |
| Methodology Used | Next-Generation Sequencing (NGS) – Full EXOSC8 Gene Coverage |
| ICD-10-CM Code | Q04.3 (Joubert syndrome) |
| LOINC Code | 87818-5 (Genetic test region analyzed) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians