Test Price
2,800 AED✅ Home Collection Available
TMEM67 Gene COACH Syndrome Genetic Test in UAE | 2,800 AED | 2026 DHA Guidelines
تحليل جين TMEM67 لمتلازمة كوتش بتقنية التسلسل الجيني من الجيل التالي في الإمارات | 2,800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary / الملخص التنفيذي
Accuracy Guarantee: 99.9% Diagnostic Sensitivity achieved via NGS (Next Generation Sequencing) processed in our ISO 9001:2015 accredited facility (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain transport and VIP Mobile Phlebotomy service available 8 AM – 11 PM daily across all Emirates.
Clinical Guidance: Complimentary Telephonic Post-Test Clinical Guidance for result interpretation by a qualified genetic counsellor.
Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
ضمان الدقة: حساسية تشخيصية بنسبة 99.9% من خلال تقنية التسلسل الجيني من الجيل التالي (NGS) في مختبرنا المعتمد بشهادة ISO 9001:2015.
الخدمات اللوجستية المتميزة: خدمة سحب الدم المنزلي على مستوى المستشفيات مع نقل مبرد معتمد وفق معايير ISO، وخدمة الفصد المتنقلة لكبار الشخصيات من الثامنة صباحاً حتى الحادية عشرة مساءً.
الإرشاد السريري: استشارة هاتفية مجانية بعد الفحص لتفسير النتائج من قبل مستشار وراثي مؤهل.
التأمين: التحقق المباشر من تغطية التأمين عبر واتساب على الرقم +971 54 548 8731.
Clinical Overview
The TMEM67 Gene COACH Syndrome Genetic Test is a comprehensive Genetic Test is indicated for patients presenting with neurological deficits, hepatobiliary anomalies, or ocular coloboma where a clinical suspicion of Joubert spectrum disorders exists.
| 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. 9834453) | ISO 9001:2015 | UAE PDPL Compliant | Variable; often lacking UAE-specific accreditation |
Physician Insight & Safety Protocol
Dr. Prabhakar Reddy — DHA Licence No. 61713011
As a clinician, I emphasise that the TMEM67 NGS test is a powerful diagnostic tool but must always be interpreted within the full clinical context. A positive result confirms the molecular diagnosis of COACH syndrome and enables targeted management, family planning, and cascade screening. However, a negative result does not entirely exclude the condition — clinical correlation with neuroimaging, hepatic function, and ophthalmological findings remains essential. I strongly advise patients to discuss all findings with their treating neurologist or clinical geneticist before making any medical decisions.
⚠ Critical Medication Warning
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 (per UAE CDS Law 2026 — Minors).
- 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
Q1: What is the TMEM67 Gene COACH Syndrome Genetic Test and who needs it?
This advanced genetic test analyses the entire TMEM67 gene using Genetic Test is also valuable for carrier screening in at-risk families and for confirmatory diagnosis when neuroimaging reveals the characteristic "molar tooth sign" on brain MRI.
هذا التحليل الجيني المتقدم يفحص جين TMEM67 بالكامل باستخدام تقنية التسلسل من الجيل التالي للكشف عن الطفرات المسببة لمتلازمة كوتش. يُنصح به للأفراد الذين يعانون من أعراض عصبية مصحوبة بمشاكل في العين أو الكبد، أو من لديهم تاريخ عائلي لمتلازمات جوبير.
Q2: 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 for your convenience: 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 2026 guidelines.
تُسلَّم النتائج خلال 3 إلى 4 أسابيع بعد جمع العينة بطريقة بسيطة. نوفر ثلاثة خيارات: سحب الدم الوريدي، أو الحمض النووي المستخلص مسبقاً، أو قطرة دم على بطاقة FTA. فريق الفصد المتنقل متاح يومياً من الثامنة صباحاً حتى الحادية عشرة مساءً.
Q3: Is genetic counselling mandatory and what insurance coverage is available in the UAE?
Yes, a mandatory pre- 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. We comply fully with UAE PDPL data privacy regulations and Federal Decree-Law No. 41 of 2024 (Art. 87) governing genetic data handling.
نعم، جلسة الاستشارة الوراثية قبل الفحص إلزامية لرسم شجرة العائلة وضمان الموافقة المستنيرة. بالنسبة للتأمين، نوفر التحقق المباشر عبر واتساب على الرقم 971545488731+. نلتزم تماماً بقانون حماية البيانات الشخصية الإماراتي والمرسوم الاتحادي رقم 41 لسنة 2024.
UAE Regulatory Compliance
Federal Decree-Law No. 41 of 2024 (Art. 87) — Genetic Data Protection | CDS Law 2026 (Minors Consent) | UAE PDPL — Personal Data Privacy Law
Facility Accreditation
DHA Facility Licence: 9834453 | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | EQA: EMQN & UK NEQAS Participant
Contact & Support
WhatsApp: +971 54 548 8731 | Home Collection: 8 AM – 11 PM Daily | License: 9834453
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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All reports reviewed by DHA-Certified physicians