Test Price
2,800 AED✅ Home Collection Available
ARL13B Gene (Joubert Syndrome Type 8) Genetic Test in UAE – 2800 AED
Executive Summary & Core Metrics
- 99.9% Diagnostic Sensitivity – ISO 15189 accredited next-generation sequencing (NGS) delivering precise detection of pathogenic ARL13B variants.
- VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – Available daily from 8 AM to 11 PM with ISO-certified sample integrity.
- Complimentary Post-Test Genetic Counseling – Telephonic session with a DHA-licensed consultant medical geneticist included in the service.
- Direct Insurance Billing – Confirm coverage instantly via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced NGS-based genetic test performs full-gene sequencing of ARL13B to identify pathogenic variants causative of Joubert syndrome type 8, a rare autosomal recessive ciliopathy characterised by cerebellar vermis hypoplasia, hypotonia, and oculomotor apraxia. Designed for families and clinicians across the UAE, the assay achieves a mean coverage depth of 300x, enabling detection of single-nucleotide variants, small insertions/deletions, and deep intronic mutations. Turnaround time is 3 to 4 weeks from sample receipt, with results integrated directly into DHA and MOHAP clinical pathways.
| Feature | Our Test (NGS ARL13B) | Alternative Approach (Limited Panel) |
|---|---|---|
| Methodology | Full gene sequencing via NGS with 300x average coverage | Targeted mutation assay or whole-exome (may miss deep intronic or regulatory variants) |
| Diagnostic Sensitivity | 99.9% sensitivity, 99.8% specificity | Approximately 92% sensitivity; elevated false-negative rate |
| Turnaround Time | 3–4 Weeks | 6–10 Weeks |
| UAE Logistics & Transport | Free ISO-certified cold-chain home collection with real-time tracking | Standard courier without temperature-controlled guarantee |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I view the ARL13B gene test as a cornerstone in the diagnostic pathway for Joubert syndrome type 8. A confirmed pathogenic mutation establishes the molecular subtype and directs targeted surveillance for renal, hepatic, and retinal complications. However, a negative result does not exclude other ciliopathies; thorough clinical evaluation and high-resolution brain imaging remain indispensable. Families should continue all prescribed therapies while awaiting results.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID 9294403
Important Clinical Advisory
Do not discontinue or adjust any prescribed neurological, antiepileptic, or supportive therapy without explicit consultation with your managing physician. Abrupt medication changes may precipitate significant clinical deterioration.
Exclusion Criteria & Urgent Red Flags
- Exclusion: Active acute febrile illness requiring immediate medical attention; recent blood transfusion within the preceding 4 weeks (may compromise DNA extraction purity).
- Exclusion: Patients unable to provide informed consent or lacking a legally authorised representative, in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Emergency Red Flags: New-onset irregular breathing (apneic episodes), severe hypotonia with swallowing difficulty, or sudden vision loss — proceed to the nearest emergency department without awaiting genetic results.
- Data Protection: All genetic information is safeguarded under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and processed within secure ISO-certified infrastructure.
Patient FAQ & Clinical Guidance
1. Is the ARL13B genetic test sufficient to confirm Joubert syndrome type 8?
The NGS-based ARL13B full-gene assay provides over 99% sensitivity for detecting pathogenic variants responsible for Joubert syndrome type 8. When integrated with characteristic brain MRI findings, such as the molar tooth sign, and a detailed neurological assessment, a positive molecular result is considered diagnostically conclusive. All reports are interpreted by DHA-licensed clinical geneticists and follow ACMG variant classification standards.
2. Do I need a physician referral to order this genetic test?
Yes, UAE regulations require a referral from a DHA-licensed specialist, such as a neurologist or clinical geneticist, to ensure appropriate pre-test counseling and documented clinical rationale under Federal Decree-Law No. 4 of 2016 on Medical Liability. Our coordination team will liaise with your referring physician, arrange pedigree documentation, and manage all regulatory submissions.
3. How is the home blood collection performed and is it suitable for children?
Our VIP Mobile Phlebotomy service follows strict pediatric protocols. A trained phlebotomist or paediatric nurse collects a small venous or finger-prick sample under sterile conditions. The specimen is immediately placed in a DNA-stabilising EDTA tube or on an FTA card, transported at 2–8°C in a validated cold-chain container, and processed in our CAP-accredited laboratory. Parental or guardian presence is mandatory throughout the procedure, and all data handling complies with UAE PDPL regulations.
UAE Regulatory & Data Privacy Adherence
Your Data, Your Rights
DNA Labs UAE fully complies 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 genetic sequencing data is encrypted, stored on ISO 27001-certified servers within the UAE, and never shared with third parties without your explicit written consent. You retain the right to access, correct, and request deletion of your personal data at any time.
Clinical & Logistical Metadata
| Test Name | ARL13B Gene (Joubert Syndrome Type 8) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Whole Blood (Peripheral) – EDTA tube or FTA card |
| Methodology Used | Next-Generation Sequencing (NGS) – 300x coverage, full gene sequencing |
| ICD-10-CM Code | Q04.8, Q87.0 |
| LOINC Code | 83505-3 |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
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All reports reviewed by DHA-Certified physicians