Test Price
2,800 AED✅ Home Collection Available
CACNA1A Gene Episodic Ataxia Type 2 Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
Clinical Guidance: Complimentary Telephonic Post-Test Clinical Guidance in result interpretation.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This targeted Next‑Generation Sequencing (NGS) test analyses the entire coding region of the CACNA1A gene to detect pathogenic variants causing episodic ataxia type 2—a dominantly inherited neurological channelopathy. Identifying the exact molecular defect empowers precise diagnosis, family risk assessment, and tailored management by a neurologist or clinical geneticist.
| Feature | Our Test (DHA‑Compliant NGS) | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Technology | Next‑Generation Sequencing (NGS) + Sanger confirmation | Sanger sequencing of selected exons |
| Coverage | Complete coding region ± flanking introns; copy number variant detection | Only targeted exons (≤ 2–3) |
| Sensitivity | > 99.9 % for SNVs, indels, and large rearrangements | ~ 90 % for point mutations in tested regions |
| Reporting | Variant classification per ACMG guidelines; clinical correlation guidance | Binary detected / not‑detected |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I understand the importance of a definitive molecular diagnosis for episodic ataxia type 2. A pathogenic variant in CACNA1A can confirm the diagnosis, but it is crucial to correlate with clinical history and family pedigree. Genetic counselling is mandatory before testing, and any medication adjustments should only be made under specialist supervision.”
— Lina Osama Zaki Quteineh, DHA Registration ID: 9294403
Advisory Notice
Medication Warning
Do not discontinue any prescribed medication (anticonvulsants, acetazolamide, or 4‑aminopyridine) without consulting your neurologist. Abrupt withdrawal may provoke severe ataxic episodes or status epilepticus.
Safety Exclusion & Emergency Red Flags
Exclusion Criteria
- Inability to provide adequate blood sample, active bleeding disorder without medical clearance, minor without legal guardian consent, or severe psychiatric instability impairing consent.
Emergency Red Flags
- Sudden severe ataxia with dysphagia or respiratory distress, first‑time prolonged loss of consciousness, or seizures lasting > 5 minutes. Seek immediate medical help.
Patient FAQ & Clinical Guidance
1. How accurate is the CACNA1A NGS test for diagnosing episodic ataxia type 2?
The test detects >99.9% of single‑nucleotide variants, small insertions/deletions, and exon‑level copy number changes in the CACNA1A gene, providing a definitive molecular diagnosis when a pathogenic variant is found.
2. Can I use a home collection service, and will my insurance cover the cost?
Yes, we offer VIP mobile phlebotomy from 8 AM to 11 PM with ISO certified cold‑chain transport; direct billing verification is available via WhatsApp at +971 54 548 8731 before the visit.
3. What is the genetic counselling requirement before the test?
A pre‑test genetic counselling session is compulsory to draw a three‑generation pedigree and discuss the autosomal dominant inheritance, potential impact on family members, and the clinical utility of NGS.
UAE Regulatory & Data Privacy Adherence
This test is conducted in full compliance with the 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 data is encrypted and access is restricted to authorized healthcare professionals. Clinical safety and patient consent follow the principles of Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | CACNA1A Gene Episodic Ataxia Type 2 Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA tube), Extracted DNA, One‑drop Blood on FTA Card |
| Methodology Used | Next‑Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | G11.9 |
| LOINC Code | 99803-9 |
| DHA Facility License & Laboratory Address | License Number: 1143 • Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE • Corporate Lab: DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians