Test Price
2,800 AED✅ Home Collection Available
TMEM67 Gene Joubert Syndrome Type 6 Genetic Test in UAE | 2800 AED | DHA Licensed Laboratory
Executive Summary & Core Metrics
✓ Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited next-generation sequencing (NGS) processing for TMEM67 gene analysis.
✓ Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home sample collection available daily from 8 AM to 11 PM across Dubai and the UAE.
✓ Clinical Guidance: Telephonic post-test clinical guidance in result interpretation by a DHA-licensed consultant medical genetics specialist.
✓ Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The TMEM67 gene genetic test employs next-generation sequencing (NGS) to analyze the entire coding region and splice sites of the TMEM67 gene. This analysis identifies pathogenic and likely pathogenic variants associated with Joubert syndrome type 6 (JBTS6), a rare autosomal recessive disorder characterized by a distinctive midbrain-hindbrain malformation (molar tooth sign), developmental delay, hypotonia, oculomotor apraxia, and variable renal and hepatic involvement. Early molecular confirmation enables precise genetic counseling, informed family planning, and timely multidisciplinary intervention.
| Feature | Our Test – TMEM67 NGS | Closest Alternative |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) of entire TMEM67 gene | Targeted mutation analysis (limited hotspots) |
| Analytical Sensitivity | 99.9% | ~85–90% (misses rare variants) |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Price | 2800 AED | Often >3500 AED with add-ons |
| Regulatory Alignment | Full DHA, Federal Law No. 2 of 2019 & UAE PDPL | Variable compliance |
Physician Insight & Safety Protocols
“Genetic results for TMEM67-related Joubert syndrome type 6 must be interpreted within the full clinical context, including detailed neuroimaging findings, developmental assessment, and comprehensive family history. A negative NGS result does not exclude other genetic etiologies of the neurodevelopmental phenotype. I strongly recommend multidisciplinary evaluation with pediatric neurology and clinical genetics to guide management and recurrence risk counseling.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Genetic Counseling & Informed Consent Advisory
Pre-Test Requirements
Per Federal Decree-Law No. 4 of 2016 on Medical Liability, all patients undergoing hereditary genetic testing must receive pre-test genetic counseling and provide written informed consent. This ensures understanding of potential results, including variants of uncertain significance and incidental findings. Consent is documented and stored in compliance with UAE health information regulations.
Exclusion Criteria & Clinical Red Flags
Critical Safety Information
- Exclusion: Testing of asymptomatic minors requires mandatory genetic counseling and parental consent prior to sample collection, in accordance with UAE federal health regulations.
- Exclusion: Non-ambulatory patients requiring intensive medical support at the time of sample collection must be stabilized first in a hospital setting.
- Red Flag: If the patient experiences acute neurological deterioration, seizures lasting longer than five minutes, or loss of consciousness, seek emergency care immediately. This genetic test does not replace urgent medical evaluation.
Patient FAQ & Clinical Guidance
1. What is the TMEM67 gene test for Joubert syndrome type 6?
This next-generation sequencing test analyzes the complete TMEM67 gene to detect pathogenic variants that cause Joubert syndrome type 6, a rare genetic disorder affecting brain development, coordination, and sometimes kidney and liver function. The test provides definitive molecular diagnosis to guide clinical management and recurrence risk counseling.
2. How should I prepare for the blood sample collection?
No fasting or special preparation is required. A standard peripheral whole blood sample (EDTA tube) is collected by our trained phlebotomist during a scheduled home visit. Our temperature-controlled cold-chain logistics ensure sample integrity from collection to laboratory processing.
3. How long do results take and how are they reported?
Results are available within 3 to 4 weeks from sample receipt. The clinical report classifies variants as pathogenic, likely pathogenic, or variants of uncertain significance (VUS), with full clinical correlation and references to population databases and in-silico prediction tools. A post-test telephonic consultation with a consultant medical geneticist is included to help you understand the findings.
UAE Regulatory & Data Privacy Adherence
Legal and Privacy Compliance
Your genetic data is handled 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 genetic information is encrypted, access-restricted, and used solely for diagnostic purposes with your explicit consent. Clinical safety and patient rights are protected under Federal Decree-Law No. 4 of 2016 on Medical Liability.
Our laboratory is DHA-licensed (Facility License No. 1143) and operates under ISO 9001:2015 quality management standards. Data is stored within the UAE and is never shared with third parties without your written authorization.
Clinical & Logistical Metadata
| Test Name | TMEM67 Gene Joubert Syndrome Type 6 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Saliva |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Analysis |
| ICD-10-CM Code | Q04.3 |
| LOINC Code | 21663-5 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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