Test Price
2,800 AED✅ Home Collection Available
WDR81 Gene Analysis (CAMRQ2 Syndrome) – Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Next-Generation Sequencing (NGS) at a DHA-licensed molecular diagnostics facility.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across Dubai and the Northern Emirates.
- Clinical Guidance: Complimentary telephonic post-test counselling with a certified genetic counsellor for result interpretation and family implications.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
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 and splice-site coverage, delivering actionable insights for neurologists, paediatric neurologists, and medical geneticists managing hereditary ataxia syndromes.
| 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 | 21–28 Days (3–4 Weeks) with interim verbal report option at week 2 | 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 Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403) 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. Pre-test genetic counselling is essential to prepare families for the implications of an autosomal recessive diagnosis, including recurrence risk assessment for future pregnancies.”
Medication Advisory
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. Always follow your specialist’s guidance for medication adjustments.
Exclusion Criteria & Emergency Red Flags
Test Exclusion Criteria:
- Inability to provide informed consent — requires legal guardian per Federal Decree-Law No. 4 of 2016 on Medical Liability for minors and adults lacking capacity.
- 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
1. 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.
2. 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 Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
3. How long do results take, and how are they delivered?
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.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates 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. All genetic data is stored and processed exclusively within UAE sovereign data centres, with access restricted to authorised clinical personnel. Patient consent mechanisms, data encryption standards, and audit protocols align with the highest international benchmarks for genomic data privacy and security.
Clinical & Logistical Metadata
| Test Name | WDR81 Gene Analysis (CAMRQ2 Syndrome) – NGS |
| Price (AED) | 2,800 |
| Turnaround Time | 21–28 Days (3–4 Weeks) |
| Sample Type / Matrix | VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Whole Blood EDTA, Extracted DNA ≥ 1 µg, or FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) with LC-MS/MS Variant Confirmation |
| ICD-10-CM Code | G11.1 (Early-onset cerebellar ataxia) |
| LOINC Code | 81264-8 (Genetic analysis of specific gene mutation) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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