Test Price
1,500 AED✅ Home Collection Available
Episodic Ataxia Type 2 (EA2) Hotspot Genetic Test in Dubai & UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189:2022 Accredited Processing at DNA Labs UAE.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Complimentary Post-Test Teleconsultation with Consultant Medical Genetics (DHA Licensed).
- Insurance: Direct Billing Verification & Support via WhatsApp +971 54 548 8731.
- Price: 1,500 AED (All-inclusive, no hidden fees).
Test Overview & Methodology
The Episodic Ataxia Type 2 (EA2) Hotspot Test is a targeted genetic assay designed to detect recurrent pathogenic mutations in the CACNA1A gene. EA2 is a channelopathy characterized by recurrent episodes of vertigo, ataxia, and migraine-like symptoms. Early molecular confirmation is critical for initiating prophylactic therapy (e.g., acetazolamide) and enabling accurate genetic counseling.
| Feature | DNA Labs UAE – EA2 Hotspot Test | Standard Ataxia Gene Panel (NGS) |
|---|---|---|
| Target Specificity | CACNA1A Hotspot Mutations (Targeted) | Comprehensive (50-100 genes) |
| Methodology | PCR + Bidirectional Sanger Sequencing | Next-Generation Sequencing (NGS) |
| Turnaround Time | 5 Business Days | 3–4 Weeks |
| Cost | 1,500 AED | 5,000+ AED |
| Analytical Sensitivity | >99.9% for known hotspot variants | ~95% (varies by region) |
Physician Insight & Safety Protocols
"Episodic Ataxia Type 2 can often be misdiagnosed due to its overlapping symptoms with vestibular disorders and migraines. This targeted hotspot test offers a rapid and highly accurate genetic confirmation, which is essential for guiding prophylactic treatment and providing accurate recurrence risk counseling for the patient and their family."
— Ms. Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
⚠️ Clinical Advisory & Medication Safety
Patients must not discontinue or alter prescribed medications (e.g., acetazolamide, antiepileptics) without consulting their treating neurologist. This genetic test is a diagnostic aid and does not replace emergency clinical evaluation during acute attacks.
🚨 Exclusion Criteria & Emergency Red Flags
- Exclusion: This test is not indicated for patients without clinical suspicion of EA2 or a documented family history. Sample rejection will occur if the "Genomics Clinical Information Requisition Form (Form 20)" is incomplete or missing.
- Emergency Red Flags: Immediate emergency care is required if acute attacks present with sudden severe headache, loss of consciousness, chest pain, or respiratory distress.
Patient FAQ & Clinical Guidance
1. What is Episodic Ataxia Type 2 and how does this test detect it?
EA2 is a rare genetic channelopathy caused by mutations in the CACNA1A gene, leading to recurrent episodes of vertigo, imbalance, and migraine-like headaches. This hotspot test uses PCR amplification and bidirectional Sanger sequencing to identify known pathogenic variants in the CACNA1A gene with >99.9% accuracy. Early diagnosis allows for targeted therapy, such as acetazolamide, and appropriate genetic counseling.
2. How should I prepare for the blood sample collection?
No fasting is required. A 2 mL whole blood sample must be collected in a Lavender Top (EDTA) tube. The sample must be refrigerated immediately and shipped via our temperature-controlled cold-chain logistics. Our VIP Mobile Phlebotomy service is available daily from 8 AM to 11 PM to collect samples from your home or office in Dubai and across the UAE.
3. How do I interpret my results and what are the next steps?
A positive result confirms a mutation in the CACNA1A gene, guiding your neurologist to tailor preventive treatment. A negative result significantly reduces the likelihood of EA2 but does not exclude other hereditary ataxias. All results include a complimentary teleconsultation with a DHA-licensed Consultant Medical Genetics to explain the findings in the context of your personal and family medical history.
4. What makes this test different from a full ataxia gene panel?
This targeted hotspot test is specifically optimized for the most common mutations in the CACNA1A gene. It offers a significantly faster turnaround time (5 days vs. 3–4 weeks) and a lower cost (1,500 AED vs. 5,000+ AED) while maintaining >99.9% sensitivity for its intended targets. The full panel is broader but slower and more expensive, making the hotspot test the most efficient first-tier diagnostic option for suspected EA2.
UAE Regulatory & Data Privacy Adherence
🔒 Your Data, Protected by UAE Law
DNA Labs UAE operates under the strictest data protection and healthcare regulations in the United Arab Emirates. All genetic data is processed in compliance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Federal Decree-Law No. 4 of 2016 on Medical Liability.
- ISO 15189:2022 (Medical Laboratories – Requirements for Quality and Competence).
Patient data is anonymized, encrypted, and stored on UAE-based servers. Results are shared strictly with the requesting physician and the patient.
Clinical & Logistical Metadata
| Test Name | Episodic Ataxia Type 2 (EA2) Hotspot Genetic Test (CACNA1A) |
| Price (AED) | 1,500 AED |
| Turnaround Time | 5 Business Days |
| Sample Type / Matrix | Whole Blood (Lavender Top EDTA Tube, 2 mL min). VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM). |
| Methodology Used | PCR Amplification & Bidirectional Sanger Sequencing (Gold Standard) |
| ICD-10-CM Code | G11.8 |
| LOINC Code | 21631-6 |
| DHA Facility License & Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Brand: DNA Labs UAE |
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