Test Price
2,800 AED✅ Home Collection Available
TCTN1 Gene Joubert Syndrome Type 13 Genetic Test (NGS) – Dubai, UAE
Executive Summary & Core Metrics
This Next Generation Sequencing (NGS) assay delivers molecular confirmation of Joubert syndrome type 13 (TCTN1 gene) with diagnostic sensitivity exceeding 99.9%. Processing is completed under ISO 9001:2015 quality management at DNA Labs UAE – a DHA-licensed facility (License No. 1143).
- ✓ Diagnostic Accuracy: >99.9% sensitivity for SNVs and small indels
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (daily 8 AM–11 PM)
- ✓ Clinical Guidance: Telephonic post‑test interpretation by a consultant geneticist
- ✓ Insurance: Direct billing verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
The TCTN1 gene test uses advanced Next Generation Sequencing (NGS) to analyze all coding exons and conserved splice sites of the TCTN1 gene. This method identifies pathogenic variants responsible for Joubert syndrome type 13 – a rare neurodevelopmental ciliopathy characterised by the molar tooth sign on brain imaging, hypotonia, and oculomotor apraxia. The assay is performed at DNA Labs UAE’s CAP‑accredited molecular laboratory.
| Feature | Our Test – NGS Advantage | Closest Alternative – Sanger Single‑Gene |
|---|---|---|
| Methodology | Next Generation Sequencing (NGS) – full gene coverage | Traditional Sanger sequencing of selected exons only |
| Diagnostic Precision | >99.9% sensitivity for single nucleotide variants and small indels | ~95% sensitivity for targeted regions; may miss deep intronic or large rearrangements |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Regulatory Compliance | ISO 9001:2015, DHA/MOHAP standards, UAE PDPL | May lack full UAE local accreditation |
Physician Insight & Safety Protocols
“The NGS-based TCTN1 gene test provides definitive molecular confirmation of Joubert syndrome type 13. However, clinical correlation with neuroimaging and a thorough neurological exam remains essential. This is not a screening test; results must be interpreted by a clinical geneticist or neurometabolic specialist. A non‑informative result does not exclude the diagnosis if clinical suspicion is high – further testing may be warranted. We strongly recommend pre‑ and post‑test genetic counseling to empower families with knowledge and support.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Important Medication Advisory
⚠️ Do Not Discontinue Prescribed Medications
Genetic test results inform treatment strategies but never replace ongoing clinical care. Always consult your attending physician before altering any medication regimen. According to Federal Decree‑Law No. 4 of 2016 on Medical Liability, clinical decisions must remain under the direct supervision of the treating doctor.
Safety & Exclusion Criteria
- Exclusion: Patients who decline mandatory genetic counseling prior to sample collection – required by UAE Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Exclusion (Minors): Sample collection from a minor without valid, documented guardian consent in accordance with the same Federal Law.
- Exclusion: Individuals who have received an allogeneic bone marrow transplant within the past 6 months, as this compromises DNA origin identification.
- Emergency Red Flags: If the patient experiences new‑onset seizures, loss of consciousness, or acute breathing irregularities, seek immediate emergency department care – do not wait for test results.
Patient FAQ & Clinical Guidance
1. What does a positive TCTN1 mutation mean for my child?
A positive result confirms a diagnosis of Joubert syndrome type 13. This requires multidisciplinary follow‑up including neurology, ophthalmology, and renal surveillance. A clinical geneticist will discuss the implications for development, prognosis, and family planning options.
2. How is the sample collected and what is the turnaround time?
A painless peripheral blood sample is collected at your home by a certified phlebotomist through our VIP Mobile Phlebotomy service (available 8 AM–11 PM daily). The specimen is transported under temperature‑controlled cold chain to our laboratory. Results are issued within 3–4 weeks from sample receipt.
3. Are there any risks or side effects associated with this genetic test?
The blood draw itself is minimally invasive with only minor transient discomfort. No significant side effects exist. However, UAE law (Federal Law No. 2 of 2019) mandates that genetic testing must be accompanied by pre‑ and post‑test counseling. Our specialist will guide you through the implications of possible results.
4. Will my genomic data remain private?
Absolutely. DNA Labs UAE complies fully with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL). Your genetic data is anonymized, encrypted using AES‑256, and never shared with third parties without your explicit written consent.
UAE Regulatory & Data Privacy Adherence
This test operates under the strictest UAE data protection and healthcare regulations. Key frameworks:
- Federal Decree‑Law No. 45 of 2021 (PDPL) – governs the collection, processing, and storage of personal data, including genomic information.
- Federal Law No. 2 of 2019 – sets standards for the use of information and communication technology in health, including mandatory consent for genetic testing.
- ISO 9001:2015 Certification (Cert: INT/EGQ/2509DA/3139) – quality management across all laboratory processes.
DHA Facility License No: 1143 | DNA Labs UAE – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
Clinical & Logistical Metadata
| Test Name | TCTN1 Gene Joubert Syndrome Type 13 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Peripheral whole blood – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (daily 8 AM–11 PM) |
| Methodology Used | Next Generation Sequencing (NGS) of all coding exons and splice sites |
| ICD‑10‑CM Code | Q04.3 – Joubert syndrome |
| LOINC Code | 21636-9 – DNA sequencing |
| DHA Facility License & Laboratory Address | DHA License No: 1143 DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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