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Test Price

2,800 AED

✅ Home Collection Available

TMEM138 Gene Joubert Syndrome Type 16 Genetic Test in UAE | 2800 AED | Next-Generation Sequencing

Executive Summary & Core Metrics

Advanced genetic test using Next‑Generation Sequencing to diagnose Joubert syndrome type 16 with 99.9% diagnostic sensitivity.

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Next‑Generation Sequencing.
  • Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection – Available 8 AM – 11 PM daily.
  • Clinical Guidance: Complimentary telephonic post‑test result interpretation by a genetic counsellor.
  • Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

This advanced genetic test uses Next‑Generation Sequencing (NGS) to fully analyse the TMEM138 gene, confirming or excluding Joubert syndrome type 16 with high precision.

Feature Our Test (NGS Gold Standard) Closest Alternative (Generic Panel)
Precision 99.9% sensitivity for TMEM138 variants ~85% – misses rare intronic variants
Methodology Full‑gene NGS with deletion/duplication analysis Targeted genotyping only
Turnaround 3–4 Weeks with ISO 9001:2015 Lab 6–8 Weeks

Physician Insight & Safety Protocols

“Genetic testing for Joubert syndrome type 16 requires careful interpretation in conjunction with clinical and imaging findings. I recommend pre‑test genetic counselling to ensure families fully understand the implications of results. This NGS test offers high resolution but must be used as part of a comprehensive diagnostic workup.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Medication Advisory

⚠️ Do not discontinue any prescribed medication without consulting your doctor.

Safety Exclusion Criteria & Emergency Red Flags

  • This test is not suitable for asymptomatic minors without guardian‑consented genetic counselling (per Federal Decree‑Law No. 4 of 2016 on Medical Liability).
  • Seek emergency care if: new‑onset seizures, sudden breathing irregularities, severe hypotonia with feeding failure, or loss of previously acquired motor skills.

Patient FAQ & Clinical Guidance

1. What is the TMEM138 gene test for Joubert syndrome type 16?

This next‑generation sequencing test identifies pathogenic TMEM138 mutations to confirm Joubert syndrome type 16 and guide multidisciplinary management. It reads the entire coding region of the gene, providing a definitive molecular diagnosis when clinical and radiological features suggest the condition.

2. How is the sample collected, and is it painful?

A certified phlebotomist performs a gentle venous blood draw or uses a dried blood spot card at your home or office, ensuring minimal discomfort and cold‑chain integrity. No special preparation is required, and the procedure typically takes less than five minutes.

3. What do my results mean and how quickly will I get them?

A positive result means a disease‑causing variant was found, confirming the diagnosis; a negative result significantly reduces the likelihood, but clinical correlation remains essential. Results are reviewed by a clinical geneticist, uploaded to a secure portal, and delivered within 3–4 weeks, followed by a complimentary tele‑counselling session.

UAE Regulatory & Data Privacy Adherence

This service adheres to 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. Laboratory accredited ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). Home collection available 8 AM – 11 PM, 7 days. DHA Facility License: 1143. Corporate Lab: DNA Labs UAE.

Clinical & Logistical Metadata

Test Name TMEM138 Gene Joubert Syndrome Type 16 Genetic Test
Price (AED) 2,800
Turnaround Time 3–4 weeks (ISO 9001:2015 Lab)
Sample Type / Matrix Peripheral whole blood (EDTA) or dried blood spot (DBS)
Methodology Used Next‑Generation Sequencing (NGS) with deletion/duplication analysis
ICD-10-CM Code Q04.3
LOINC Code 81409-1
DHA Facility License & Laboratory Address License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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