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Test Price

2,800 AED

โœ… Home Collection Available

TMEM237 Gene Joubert Syndrome Type 14 Genetic Test in Dubai | 2800 AED | DNA Labs UAE

Executive Summary & Core Metrics

Clinical Guarantee & Service Highlights

DNA Labs UAE delivers a definitive molecular diagnosis for Joubert syndrome type 14 through comprehensive next-generation sequencing (NGS) of the TMEM237 gene. Our ISO 9001:2015 certified process (Cert: INT/EGQ/2509DA/3139) ensures >99.9% analytical sensitivity. Each test includes a telephonic post-test consultation with a consultant medical geneticist to interpret results and guide next steps.

  • Accuracy Guarantee: 99.9% diagnostic sensitivity via NGS with full gene coverage and CNV detection.
  • Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection (daily 8 AM โ€“ 11 PM) included in the package.
  • Clinical Guidance: Telephonic post-test consultation with a specialist medical geneticist at no extra cost.
  • Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.

Test Overview & Methodology

The TMEM237 gene Joubert syndrome type 14 NGS test analyses the entire coding region and splice sites using next-generation sequencing technology. This method detects point mutations, small insertions/deletions, and copy number variants with >99.9% sensitivity. The test is ideal for individuals with clinical suspicion of Joubert syndrome, cerebellar vermis hypoplasia, or a known family history of the condition.

Feature Our TMEM237 NGS Test Closest Alternative (Targeted Sanger)
Precision Full gene coverage, CNV detection, >99.9% analytical sensitivity Limited to known hot-spot mutations, misses large deletions
Methodology NGS with proprietary bioinformatics pipeline Sanger sequencing of selected exons
Speed 3โ€“4 Weeks (wet-lab + analysis) 4โ€“6 Weeks (if multiple targets required)

Physician Insight & Safety Protocols

โ€œA positive TMEM237 variant provides a definitive molecular diagnosis of Joubert syndrome type 14, enabling targeted surveillance and family counselling. I always stress the importance of genotype-phenotype correlation and segregation analysis before making major clinical decisions. Please involve your neurologist and clinical geneticist when interpreting these results.โ€

โ€” Ms. Lina Osama Zaki Quteineh, Consultant Medical Genetics, DNA Labs UAE (DHA License: 9294403)

Medication Advisory

โš ๏ธ Important

Do not discontinue prescribed medication without consulting your doctor.

Exclusion Criteria & Emergency Red Flags

  • This test is not for individuals without clinical suspicion of Joubert syndrome or a known family history.
  • Genetic counselling is mandatory prior to sample collection; patients who refuse counselling are excluded.
  • If the patient exhibits acute neurological deterioration, seizure, or respiratory distress, seek emergency care immediatelyโ€”do not wait for test results.
  • Pediatric samples require parental consent as per Federal Decree-Law No. 4 of 2016 on Medical Liability.

Patient FAQ & Clinical Guidance

1. How accurate is the TMEM237 NGS test for Joubert syndrome, and can it detect all mutations?

Our NGS approach achieves over 99.9% analytical sensitivity and specificity, delivering a near-exhaustive screen of the entire TMEM237 coding region, including point mutations, small insertions/deletions, and copy number variants. While no test can claim 100% coverage of every non-coding region, our protocol identifies the vast majority of clinically relevant variants, providing a reliable molecular diagnosis when interpreted alongside clinical and radiological findings.

2. What is the sample requirement, and does the price include home collection?

We accept whole blood, extracted DNA, or a single drop of blood on an FTA card; the collection kit is provided during our ISO-certified cold-chain home visit, which is included in the 2800 AED package. The sample is transported under strict temperature control to our central laboratory, ensuring specimen integrity and uncompromised sequencing quality.

3. How will I receive my results, and who will explain them?

A detailed digital report is shared securely via our patient portal within 3 to 4 weeks, and a pre-scheduled telephonic consultation with a physician fluent in your language is provided at no additional cost to walk you through the clinical significance, inheritance pattern, and recommended follow-up steps. All data is handled in compliance with UAE PDPL, accessible only to authorized healthcare professionals.

UAE Regulatory & Data Privacy Adherence

DNA Labs UAE operates under DHA Facility License Number 1143 and adheres to all applicable UAE federal laws. All patient 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. Genetic results are treated as highly sensitive data and are only shared with the requesting physician and the patient after verified consent. Our laboratory is ISO 9001:2015 certified and follows strict quality management protocols.

Clinical & Logistical Metadata

Test Name TMEM237 Gene Joubert Syndrome Type 14 NGS Test
Price (AED) 2,800 AED
Turnaround Time 3โ€“4 Weeks
Sample Type / Matrix Whole blood (EDTA), extracted DNA, or FTA card (peripheral blood)
Methodology Used Next-Generation Sequencing (NGS) โ€“ full gene coverage
ICD-10-CM Code Q04.3
LOINC Code 57555-2
DHA Facility License & Laboratory Address DHA License 1143 โ€“ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.

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โœ… DHA Certified โœ… ISO 15189 โœ… HIPAA Compliant

Available in Arabic, English, Hindi & Urdu

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ISMS 27001:2022

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ISO Accredited

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HIPAA

All reports reviewed by DHA-Certified physicians