Test Price
2,800 AED✅ Home Collection Available
WDR81 Gene Analysis (CAMRQ2 Syndrome) – Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين WDR81 لمتلازمة الرنح المخيخي واضطراب التوازن (النمط الثاني) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary — Clinical-Grade NGS Precision for CAMRQ2
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Next-Generation Sequencing (NGS) processing at a DHA-licensed molecular diagnostics facility.
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain transportation and VIP Mobile Phlebotomy (8 AM – 11 PM, Dubai & Northern Emirates).
- Clinical Guidance: Complimentary telephonic post-test clinical guidance in result interpretation with a certified genetic counsellor.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
الملخص التنفيذي
تحليل تسلسل الجينوم الكامل لجين WDR81 باستخدام تقنية التسلسل من الجيل التالي (NGS) لتشخيص متلازمة الرنح المخيخي واضطراب التوازن النمط الثاني (CAMRQ2). يُجرى هذا الفحص الجيني المتقدم في مختبر معتمد وفقاً لمعايير الآيزو 9001:2015 وتحت إشراف هيئة الصحة بدبي، مع خدمة سحب عينات منزلية فاخرة ونتائج دقيقة بنسبة 99.9%.
Clinical Overview
The WDR81 Gene NGS Test is a high-resolution molecular diagnostic assay designed to detect pathogenic variants in the WDR81 gene associated with Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome Type 2 (CAMRQ2) — a rare autosomal recessive neurological disorder. This test utilises Next-Generation Sequencing (NGS) technology to achieve comprehensive coding-region coverage, delivering actionable insights for neurologists, paediatric neurologists, and medical geneticists managing hereditary ataxia syndromes. يكشف هذا الفحص الطفرات الجينية المسببة لمتلازمة الرنح المخيخي والإعاقة الذهنية الوراثية.
| Feature | Our Test — NGS (Current Standard) | Closest Alternative — Sanger Sequencing (Single-Gene) |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity; full coding region + splice-site analysis | ~95% sensitivity; limited to known hotspot regions |
| Methodology | Next-Generation Sequencing (NGS) — LC-MS/MS validated variant confirmation | Capillary Electrophoresis Sanger Sequencing |
| Turnaround Time | 3 to 4 Weeks with interim verbal report option | 6 to 8 Weeks (batch-dependent) |
| Variant Detection Scope | SNVs, indels, copy number variants (CNVs), and novel pathogenic variants | SNVs and small indels only; CNVs may be missed |
Physician Insight & Safety Protocol
Dr. PRABHAKAR REDDY (DHA License: 61713011) notes: “The WDR81 NGS assay provides definitive molecular confirmation for suspected CAMRQ2 syndrome, but it must always be interpreted alongside a comprehensive neurological examination, brain MRI findings (particularly cerebellar vermis hypoplasia), and a detailed three-generation pedigree. Genetic counselling prior to testing is essential to prepare families for the implications of an autosomal recessive diagnosis, including recurrence risk assessment for future pregnancies.”
⚠️ MEDICATION NOTICE: Do not discontinue any prescribed neurological medication, anti-epileptic drug, or supportive therapy without consulting your treating physician. This genetic test is diagnostic and does not replace ongoing clinical management.
Exclusion Criteria & Emergency Red Flags
Test Exclusion Criteria:
- Inability to provide informed consent (requires legal guardian per UAE CDS Law 2026 for minors).
- Active coagulopathy or severe thrombocytopenia contraindicating venipuncture — consult phlebotomy team for FTA card alternative.
- Recent allogeneic bone marrow transplant (< 90 days) — may confound germline DNA analysis.
Clinical Red Flags (Seek Emergency Care):
- Acute neurological deterioration with loss of ambulation or consciousness.
- Status epilepticus or prolonged seizure activity lasting > 5 minutes.
- Severe dysphagia with aspiration risk or respiratory distress.
- Sudden-onset cerebellar haemorrhage symptoms: severe headache, vomiting, ataxia exacerbation.
If you or the patient experience any of the above red-flag symptoms, proceed immediately to the nearest emergency department. This test is not a replacement for acute neurological assessment.
Patient FAQ & Clinical Guidance
Q1: What does the WDR81 gene test diagnose, and who should consider it?
This NGS-based genetic test diagnoses CAMRQ2 syndrome — a rare inherited condition causing early-onset cerebellar ataxia, intellectual disability, and balance impairment — and is recommended for children or adults presenting with progressive gait instability, cerebellar hypoplasia on MRI, and a family history suggestive of autosomal recessive neurological disease. The test is appropriate for symptomatic individuals requiring molecular confirmation, asymptomatic siblings for carrier screening, and couples with a known family history seeking preconception genetic counselling. A referral from a neurologist or medical geneticist is strongly advised prior to sample collection.
Q2: How is the sample collected, and what preparation is required?
Sample collection is performed via a standard venipuncture (3–5 mL whole blood in EDTA tube), a finger-prick blood spot on an FTA card, or submission of previously extracted DNA — all of which require no fasting and no medication discontinuation unless explicitly directed by your physician. Our DHA-licensed mobile phlebotomy team provides hospital-grade home collection across Dubai, Abu Dhabi, Sharjah, and the Northern Emirates from 8 AM to 11 PM. Pre-test genetic counselling is mandatory to document a three-generation pedigree and obtain informed consent in compliance with UAE PDPL and Federal Decree-Law No. 41 of 2024, Article 87.
Q3: How long do results take, and how are they delivered? كم يستغرق ظهور النتائج وكيف يتم تسليمها؟
Results are delivered within 3 to 4 weeks in a comprehensive, DHA-compliant molecular pathology report that identifies pathogenic variants, zygosity status, and clinical correlation recommendations — with an optional interim verbal report available at week 2 upon request. The final report is shared via encrypted email and a secure patient portal. A complimentary telephonic post-test counselling session with a certified genetic counsellor is included to explain the findings, discuss implications for family members, and outline next steps for neurological follow-up. يتم تسليم النتائج خلال 3 إلى 4 أسابيع مع جلسة استشارة وراثية مجانية بعد الفحص.
Regulatory Compliance: This diagnostic service complies with UAE Federal Decree-Law No. 41 of 2024 (Art. 87), UAE PDPL, and CDS Law 2026 for minor consent and data privacy. All genetic data is stored and processed within UAE sovereign data centres.
Facility License: DHA License No. 9834453 | ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
Pre- Requirement: A clinical history including neurological examination findings, prior MRI reports, and a genetic counselling session to construct a three-generation pedigree is mandatory before sample processing.
Accepted Sample Types: Whole Blood (EDTA), Extracted DNA (≥ 1 µg), or One Drop of Blood on FTA Card.
Primary Clinical Specialties: Neurology, Paediatric Neurology, Medical Genetics.
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