Test Price
2,800 AED✅ Home Collection Available
CACNB4 Gene Episodic Ataxia Type 5 (EA5) Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – Available daily 8 AM to 11 PM.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-licensed specialists.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The CACNB4 Gene Episodic Ataxia Type 5 (EA5) Genetic Test is a next‑generation sequencing analysis that detects pathogenic variants in the CACNB4 gene associated with episodic ataxia type 5, a hereditary neurological disorder characterized by recurrent episodes of incoordination and imbalance. Performed on whole blood or extracted DNA, the test provides a definitive molecular diagnosis within 3 to 4 weeks, enabling personalized management, genetic counseling, and family risk assessment.
| Feature | Our Test – NGS Full Gene Analysis | Closest Alternative – Sanger Sequencing Panel |
|---|---|---|
| Precision / Coverage | Complete coding region & splice sites of CACNB4; >99.9% sensitivity for known and novel mutations | Targeted analysis of limited hotspot variants; may miss rare or novel mutations |
| Method | Next-Generation Sequencing (Illumina platform) with rigorous bioinformatic pipeline | Capillary Electrophoresis (Sanger) – lower throughput, variant‑by‑variant |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
| Clinical Utility | Gold standard for genetic confirmation, family screening, and management guidance | Suitable only when index case mutation known; limited discovery power |
Physician Insight & Safety Protocols
“As a consultant in medical genetics, I emphasize that a positive CACNB4 mutation confirms the genetic basis of episodic ataxia type 5, yet clinical correlation with detailed neurological examination and family history remains essential. A negative result does not exclude other genetic or acquired causes of ataxia; patients should follow up with their primary neurologist for comprehensive evaluation.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Medication Advisory
⚠️ Medication Advisory
Do not discontinue prescribed medication without consulting your doctor. Genetic test results must be interpreted in the context of ongoing treatment; abrupt changes may exacerbate ataxic episodes.
Safety & Exclusion Criteria
Contraindications and Limitations
- Not for emergency diagnosis: Patients with acute, rapidly progressing neurological deficits or suspected stroke require immediate medical attention, not elective genetic testing.
- Contraindications for sample collection: Known bleeding disorder or therapeutic anticoagulation (relative) – discuss with healthcare provider before venipuncture.
- Legal limitation: Results should not be used as the sole basis for critical non‑medical decisions without additional genetic counseling and DHA‑compliant reporting.
🚨 Emergency Red Flags: Sudden severe headache, confusion, loss of consciousness, or seizures after blood draw – seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What is the CACNB4 gene and how is it linked to episodic ataxia type 5?
Direct answer: The CACNB4 gene encodes a calcium channel subunit, and pathogenic mutations cause episodic ataxia type 5, a neurological disorder presenting with recurrent episodes of incoordination and imbalance.
2. How accurate is this NGS test for diagnosing EA5, and what does a negative result mean?
Direct answer: With >99.9% sensitivity for coding region variants, a negative result significantly reduces the likelihood of EA5 due to CACNB4, but cannot rule out other genetic or acquired ataxias.
3. Is home blood collection available across the UAE, and how should I prepare for the test?
Direct answer: Yes, DHA‑licensed phlebotomists provide VIP mobile phlebotomy home collection from 8 AM to 11 PM; maintain normal activities and hydration, and do not stop any medications unless advised by your doctor.
UAE Regulatory & Data Privacy Adherence
- Data Protection: All genetic data is handled in strict 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.
- Patient Consent: Informed consent is obtained as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Accreditation: DNA Labs UAE is licensed by the Dubai Health Authority (DHA) under facility number 1143 and operates under ISO 9001:2015 quality management.
Clinical & Logistical Metadata
| Test Name | CACNB4 Gene Episodic Ataxia Type 5 (EA5) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA tube), Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Analysis |
| ICD-10-CM Code | G11.1 (Episodic ataxia) |
| LOINC Code | 21760-0 (Genetics test interpretation) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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