Test Price
2,800 AED✅ Home Collection Available
TMEM67 Gene COACH Syndrome Genetic Test in UAE | 2,800 AED | DHA-Licensed
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity achieved via Next Generation Sequencing (NGS) processed in our ISO 9001:2015 accredited facility.
Premium Logistics: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM across all Emirates.
Clinical Guidance: Complimentary telephonic post-test guidance by a qualified genetic counsellor for result interpretation.
Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The TMEM67 Gene COACH Syndrome Genetic Test is a comprehensive NGS-based analysis indicated for patients presenting with neurological deficits, hepatobiliary anomalies, or ocular coloboma where a clinical suspicion of Joubert spectrum disorders exists. This test provides full gene coverage including intronic flanking regions, detecting single nucleotide variants, insertions/deletions, and copy number variations.
| Feature | Our Test — NGS TMEM67 | Closest Alternative — Sanger Sequencing |
|---|---|---|
| Diagnostic Precision | Full gene coverage including intronic flanking regions; detects SNVs, indels, and CNVs | Limited to targeted exon regions; may miss deep intronic or regulatory variants |
| Methodology | NGS (Next Generation Sequencing) with 100x mean read depth | Capillary electrophoresis-based Sanger sequencing |
| Turnaround Time | 3 to 4 Weeks | 6 to 10 Weeks for full gene coverage |
| Variant Detection Rate | ~95% detection rate for TMEM67 pathogenic variants | ~70% when limited to hotspot exons |
| Sample Requirements | Whole Blood (EDTA), Extracted DNA, or DNA FTA Card | Whole Blood or Extracted DNA only |
| Regulatory Compliance | DHA-Licensed Facility (No. 1143) | ISO 9001:2015 | UAE PDPL Compliant | Variable; often lacking UAE-specific accreditation |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh — Consultant Medical Genetics | DHA Registration ID: 9294403
As a Consultant Medical Geneticist, I strongly recommend this NGS-based TMEM67 analysis for patients with clinical features suggestive of COACH syndrome. The high sensitivity of NGS ensures detection of a broad spectrum of variants, which is crucial for accurate diagnosis and genetic counselling. However, results must always be interpreted in conjunction with clinical, imaging, and biochemical findings. I advise all patients to undergo pre- and post-test genetic counselling to fully understand implications.
Advisory: Do Not Discontinue Medications Without Physician Consultation
Do not discontinue any prescribed medication, including anticonvulsants, hepatoprotective agents, or any other therapy, without consulting your treating physician. This genetic test is a diagnostic investigation and does not replace ongoing clinical management.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria — Do Not Proceed If:
- Patient is under 18 years of age without legal guardian consent.
- Inability to provide a valid Emirates ID or passport for identity verification.
- Active acute illness with fever >38.5°C — reschedule collection.
- Recent blood transfusion (<4 weeks prior) — may interfere with germline DNA analysis.
- Patient declines mandatory pre-test genetic counselling session.
Emergency Red Flags — Seek Immediate Medical Attention:
- Acute neurological deterioration or new-onset seizures.
- Signs of hepatic decompensation: jaundice, ascites, or coagulopathy.
- Sudden visual loss or acute ocular pain.
- Severe ataxia leading to falls or inability to ambulate.
Patient FAQ & Clinical Guidance
1. What is the TMEM67 Gene COACH Syndrome Genetic Test and who needs it?
This advanced genetic test analyses the entire TMEM67 gene using Next Generation Sequencing to detect mutations associated with COACH syndrome. It is indicated for individuals with neurological symptoms combined with ocular coloboma or liver disease, and for at-risk family members seeking carrier screening or confirmatory diagnosis when neuroimaging reveals the characteristic “molar tooth sign” on brain MRI.
2. How long do results take and what does the sample collection process involve?
Results are delivered within 3 to 4 weeks following a simple, minimally invasive sample collection that can be performed at home or in-clinic. We accept three sample types: a standard whole blood draw (EDTA tube), previously extracted DNA, or a single drop of blood on a DNA FTA Card. Our VIP Mobile Phlebotomy team operates daily from 8 AM to 11 PM across all Emirates. Once the sample reaches our ISO-certified laboratory, DNA is extracted, libraries are prepared, and NGS is performed at 100x coverage depth. Bioinformatics analysis identifies and classifies variants according to ACMG/AMP guidelines.
3. Is genetic counselling mandatory and what insurance coverage is available in the UAE?
Yes, a mandatory pre-test genetic counselling session is required to draw a detailed pedigree chart and ensure fully informed consent before proceeding. This session, conducted by a DHA-licensed genetic counsellor, helps you understand the inheritance pattern (autosomal recessive), recurrence risks for future pregnancies, and the potential implications of positive, negative, or uncertain results. Regarding insurance, we offer direct billing verification — simply send your insurance card via WhatsApp to +971 54 548 8731 and our team will confirm your coverage within one business day.
UAE Regulatory & Data Privacy Adherence
We strictly adhere 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. All genetic data is handled with strict confidentiality and stored securely. Patient consent is obtained in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Facility Accreditation: DHA Facility License No. 1143 | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | EQA participation in EMQN & UK NEQAS.
Clinical & Logistical Metadata
| Test Name | TMEM67 Gene COACH Syndrome Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or DNA FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) with 100x mean read depth |
| ICD-10-CM Code | Q04.3 (Joubert syndrome) |
| LOINC Code | 21759-9 (TMEM67 gene mutation analysis) |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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