Test Price
2,800 AED✅ Home Collection Available
TMEM216 Gene Joubert Syndrome Type 2 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary: This advanced genetic screening, certified under ISO 9001:2015, delivers 99.9% diagnostic sensitivity through Next-Generation Sequencing (NGS) to identify pathogenic variants in the TMEM216 gene associated with Joubert syndrome type 2. The analysis is performed under full clinical supervision in accordance with Dubai Health Authority (DHA) regulatory standards for genetic diagnostics.
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 certified NGS processing with full gene coverage.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Complimentary post-test telephonic result interpretation with a consultant medical geneticist.
- Insurance: Direct billing verification and prior approval assistance via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The TMEM216 NGS test sequences the entire coding region of the TMEM216 gene to detect biallelic pathogenic variants causing Joubert syndrome type 2, a rare autosomal recessive ciliopathy characterised by cerebellar vermis hypoplasia, hypotonia, and developmental delay. Utilising the Illumina platform with LC‑MS/MS‑grade reagents, the assay delivers comprehensive coverage including single nucleotide variants, insertions, deletions, and copy number changes.
| Feature | Our Test (TMEM216 NGS) | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Diagnostic Precision | 99.9% – full gene coverage, detects SNVs, indels, and copy number changes | ~95% – only targeted exons, may miss deep intronic variants |
| Methodology | Next‑Generation Sequencing (Illumina platform), LC‑MS/MS‑grade reagents | Capillary Sanger sequencing |
| Turnaround Time | 3–4 weeks with comprehensive clinical report | 6–8 weeks (often outsourced) |
Physician Insight & Safety Protocols
“This NGS-based analysis elucidates the molecular basis of the cerebellar and brainstem malformations characteristic of Joubert syndrome type 2. I routinely integrate these findings with high-resolution MRI and developmental assessments before discussing prognosis with families. Your neurologist and genetic counsellor remain your primary partners in care throughout the diagnostic journey.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Safety Advisory and Medication Guidance
Important Medication Advisory
Do not alter, pause, or discontinue any prescribed medications or therapies without explicit instruction from your managing physician. This genetic test serves a diagnostic purpose and does not replace ongoing clinical management or treatment plans.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients under 18 years without legal guardian consent as mandated by Federal Decree-Law No. 4 of 2016 on Medical Liability for paediatric genetic testing.
- Exclusion: Active coagulopathy or severe thrombocytopenia that contraindicates venipuncture.
- Emergency Red Flags: New‑onset seizures, acute respiratory distress, or signs of raised intracranial pressure (tense fontanelle in infants, projectile vomiting) – proceed to the nearest emergency department immediately.
Patient FAQ & Clinical Guidance
1. What is the TMEM216 gene test and who should consider it?
The TMEM216 NGS test detects biallelic mutations that cause Joubert syndrome type 2, a rare neurodevelopmental disorder. It is recommended for children presenting with hypotonia, ataxia, and the molar tooth sign on brain MRI, as well as for families with a known history of ciliopathies seeking carrier or prenatal testing.
2. How is the sample collected and is it painful?
A small volume of peripheral whole blood is drawn from a vein in the arm by a DHA‑licensed paediatric phlebotomist using cold‑chain transport for maximum nucleic acid stability. The procedure involves minimal discomfort and is completed within minutes.
3. How long until I receive results and genetic counselling?
Final results are available within 3–4 weeks and include a detailed clinical report with variant interpretation. A complimentary virtual genetic counselling session with a consultant medical geneticist is scheduled immediately after report release to explain the findings and guide next steps.
4. Will insurance cover the cost of this genetic test?
Coverage varies by insurance provider and plan. Our team offers direct billing verification and prior approval assistance. Please contact us via WhatsApp at +971 54 548 8731 to check your eligibility and receive pre-authorisation support.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework: This genetic test is conducted 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 patient genetic data is encrypted, access‑controlled, and processed within secure UAE‑based servers. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE holds DHA Facility License Number 1143 and operates under the oversight of the Dubai Health Authority.
Clinical & Logistical Metadata
| Test Name | TMEM216 Gene Joubert Syndrome Type 2 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral whole blood (venous draw) – VIP mobile phlebotomy and cold-chain home collection available daily from 8 AM to 11 PM |
| Methodology Used | Next‑Generation Sequencing (NGS) on Illumina platform with full coding region coverage |
| ICD-10-CM Code | Q04.3 (Cerebellar hypoplasia / Joubert syndrome type 2) |
| LOINC Code | 82939-0 (Genetic analysis sequencing panel for inherited disorder) |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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