Test Price
2,800 AED✅ Home Collection Available
CEP290 Gene Sequencing (Joubert Syndrome Type 5) – Genetic Test in UAE
Executive Summary & Core Metrics
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – safe for whole blood, FTA cards, or extracted DNA. Available daily from 8 AM to 11 PM.
- ✓ Clinical Guidance: Telephonic Post-Test Clinical Correlation session with our DHA-licensed genetic counsellors.
- ✓ Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The CEP290 gene NGS test analyses the entire coding region for pathogenic variants linked to Joubert syndrome type 5, a rare ciliopathy causing cerebellar vermis hypoplasia, ataxia, and abnormal eye movements. This targeted analysis confirms the molecular diagnosis and guides clinical management and family genetic counselling.
| Feature | Our CEP290 NGS Test | Whole Exome Sequencing (Alternative) |
|---|---|---|
| Method | Targeted Next‑Generation Sequencing (NGS) with high‑coverage (≥100x) | Whole Exome Sequencing (WES) – broad analysis |
| Diagnostic Precision | 99.9% sensitivity for CEP290 variants | ~95% for exonic variants; lower depth for single gene |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Cost | 2800 AED | ~4500 AED (varies by provider) |
| Ideal For | Suspected Joubert syndrome type 5, family cascade testing | When phenotype is unclear, multiple gene testing |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I emphasize that a CEP290 mutation confirms the molecular diagnosis of Joubert syndrome type 5, but the result must always be interpreted within the full clinical context. Negative findings do not rule out other ciliopathy genes that can produce overlapping neuroradiological features. Our multidisciplinary team ensures robust variant classification, segregation analysis, and pre‑ and post-test genetic counselling.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory Safety Measures
Clinical Precautions Before Sample Collection
Patients are advised to provide a complete three‑generation pedigree chart and neurological examination summary prior to testing. Patients on anticoagulant therapy must consult their prescribing physician to determine whether temporary discontinuation is medically appropriate. This test should not be used as a standalone diagnostic tool for acute neurological deterioration.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Active febrile illness or systemic infection at the time of blood draw.
- Uncontrolled bleeding diathesis that contraindicates venipuncture; discuss alternative sampling methods with your physician.
- Inability to provide informed consent; for minors, guardian consent is required under UAE Federal Law.
Emergency Red Flags
- New‑onset seizures, prolonged apnoeic episodes, or sudden loss of consciousness require immediate transfer to the nearest Emergency Department. This genetic test does not replace acute medical evaluation.
Patient FAQ & Clinical Guidance
1. What is the CEP290 gene test for Joubert syndrome type 5?
This targeted genetic test is recommended for individuals presenting with clinical features such as the molar tooth sign on cranial MRI, hypotonia, ataxia, and oculomotor apraxia. It is also used for cascade screening in family members after an index case has been confirmed. The test detects pathogenic variants in the CEP290 gene with 99.9% diagnostic sensitivity.
2. How is the sample collected and what is the turnaround time?
A certified phlebotomist collects a venous whole blood sample or a single drop on an FTA card at your home through our temperature‑controlled cold‑chain service. Alternatively, pre‑extracted DNA meeting quality thresholds (concentration ≥20 ng/µL, A260/A280 ratio 1.8–2.0) may be submitted. The standard turnaround is 3 to 4 weeks from sample receipt, with an optional preliminary verbal update available after 2 weeks for urgent clinical cases.
3. Does insurance cover this genetic test in UAE?
Many UAE health insurers provide partial or full coverage for diagnostic genetic testing when ordered by a DHA‑licensed neurologist or clinical geneticist. Our billing team performs a direct eligibility check via WhatsApp at +971 54 548 8731 prior to sample collection, ensuring upfront transparency with no hidden charges.
UAE Regulatory & Data Privacy Adherence
Your Data. Protected by UAE Law.
DNA Labs UAE operates 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. Patient genetic data is encrypted, access‑controlled, and never shared with third parties without explicit written consent. All clinical testing and patient safety protocols adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. Our DHA‑licensed facility undergoes annual regulatory audit to maintain compliance.
Clinical & Logistical Metadata
| Test Name | CEP290 Gene Sequencing (Joubert Syndrome Type 5) |
| Price (AED) | 2800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood, FTA Card, or Extracted DNA (≥20 ng/µL) |
| Methodology Used | Targeted Next‑Generation Sequencing (NGS) – ≥100x coverage |
| ICD-10-CM Code | Q04.3 |
| LOINC Code | 79016-0 |
| DHA Facility License & Laboratory Address | DHA Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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