Test Price
2,800 AED✅ Home Collection Available
TMEM231 Gene Joubert Syndrome Type 20 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO-Certified Cold-Chain and VIP Mobile Phlebotomy (daily 8 AM–11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-licensed Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The TMEM231 Gene Genetic Test integrates Next Generation Sequencing with rigorous bioinformatics to identify pathogenic, likely pathogenic, and variants of uncertain significance in the TMEM231 gene, causative of Joubert syndrome type 20 (JBTS20). This test offers complete coverage of all coding exons plus ±20 bp flanking intronic regions and includes copy number assessment for deletions/duplications.
| Feature | Our Test (ISO‑Certified) | Closest Alternative |
|---|---|---|
| Technology | NGS with Sanger validation of all reported variants | Sanger sequencing alone (lower variant detection) |
| Gene Coverage | Full coding exons ±20 bp flanking intronic regions, copy number assessment | Targeted mutation panel (limited to known hotspots) |
| Turnaround Time | 3–4 Weeks (express reporting available) | 6–8 Weeks |
Physician Insight & Safety Protocols
Insight from Our Consultant Medical Geneticist:
“A diagnosis of Joubert syndrome carries profound implications for neurodevelopmental prognosis and family counselling. This test provides molecular clarity that enables truly personalized management plans—including surveillance for renal and hepatic involvement. However, genetic results must always be integrated with brain MRI findings, clinical examination, and a detailed three‑generation pedigree analysis. The test is one piece of the puzzle; the full picture requires a multidisciplinary team.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Notes Before Testing
- Mandatory genetic counselling session prior to sample collection, as required by UAE Federal Decree‑Law No. 4 of 2016 on Medical Liability (Article 87).
- Provide a three‑generation family pedigree to the genetic counsellor to assess hereditary risk and inform variant interpretation.
- Do not discontinue any prescribed medication without consulting the treating physician; this test is diagnostic and not intended to guide acute treatment changes.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: This genetic test is not appropriate for acute neurological emergencies, individuals unable to provide informed consent, or those who cannot attend a mandatory genetic counselling session.
- Emergency Red Flags: If the patient experiences sudden loss of consciousness, prolonged seizures, acute respiratory distress, or inability to feed, seek immediate emergency medical attention. This test does not substitute for urgent neurological care.
Patient FAQ & Clinical Guidance
1. What exactly does the TMEM231 genetic test detect, and why is it ordered?
Snippet: The TMEM231 gene test identifies pathogenic DNA variants in the TMEM231 gene that cause Joubert syndrome type 20, a severe neurodevelopmental ciliopathy.
Clinicians order this test when a patient presents with the hallmark molar tooth sign on brain MRI, hypotonia, ataxia, and developmental delay. Confirming a molecular diagnosis guides prognosis, recurrence risk, and enrollment in emerging gene‑targeted therapies.
2. How is the sample collected, and is home collection available in the UAE?
Snippet: A certified phlebotomist collects 3 mL of whole blood (or saliva) from the comfort of your home.
Our VIP mobile phlebotomy service operates daily from 8 AM to 11 PM across all Emirates. The sample is transported in a validated cold‑chain container to our ISO‑certified lab, ensuring DNA integrity. Alternatively, you may provide previously extracted DNA through a courier collection kit.
3. What preparation is required before the test, and how will I receive the results?
Snippet: You must attend a mandatory genetic counselling session and provide a detailed three‑generation family pedigree before sample collection.
The counselling session explains the test’s scope, potential findings (including variants of uncertain significance), and implications for family members. Results are delivered as a secure PDF report to your DHA‑licensed neurologist or geneticist within 3–4 weeks, followed by a telephonic interpretation session with our Consultant Medical Geneticist.
UAE Regulatory & Data Privacy Adherence
Data Protection & Legal Compliance
This service fully adheres to:
• Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for secure processing of sensitive genetic data.
• Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for electronic health records and telemedicine.
• Federal Decree-Law No. 4 of 2016 on Medical Liability for mandatory genetic counselling and informed consent.
All samples are processed in an ISO 9001:2015 certified facility (Cert: INT/EGQ/2509DA/3139), and results are delivered only to the ordering DHA‑licensed clinician.
Clinical & Logistical Metadata
| Test Name | TMEM231 Gene Sequencing for Joubert Syndrome Type 20 |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks (express available) |
| Sample Type / Matrix | Whole blood (3 mL) or saliva |
| Methodology Used | Next Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | Q04.3 (Joubert syndrome) |
| LOINC Code | 101356-6 (TMEM231 gene sequence analysis) |
| DHA Facility License & Address | License 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