Test Price
2,000 AEDโ Home Collection Available
Episodic Ataxia Comprehensive Profile (Hotspot Panel) in UAE
Executive Summary & Core Metrics
Clinical Performance & Service Guarantees
- Diagnostic Sensitivity: 99.9% through targeted PCR and Sanger sequencing of high-yield hotspot regions in genes KCNA1, CACNA1A, and related channelopathy loci.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection โ available daily from 8 AM to 11 PM.
- Clinical Guidance: Post-test tele-consultation with a DHA-licensed Consultant Medical Genetics for comprehensive result interpretation and family counseling.
- Insurance Support: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The Episodic Ataxia Comprehensive Profile (Hotspot Panel) is a targeted molecular genetic assay that screens for pathogenic variants in the principal genes associated with episodic ataxia syndromes types 1 and 2, as well as related channelopathies. The methodology combines high-specificity PCR amplification with Sanger sequencing of clinically validated mutational hotspots, supplemented by LC-MS/MS allele discrimination for unambiguous variant calling. This focused approach delivers actionable results within a clinically relevant turnaround time without the incidental findings typical of broader genomic platforms.
| Feature | Our Hotspot Panel | Whole Exome Sequencing (WES) |
|---|---|---|
| Analytical Sensitivity | 99.9% (PCR + Sanger sequencing of high-yield hotspots) | Variable; often lower coverage in hotspot regions |
| Methodology | Targeted PCR and Sanger sequencing; LC-MS/MS-validated allele discrimination | Whole exome capture + NGS |
| Turnaround Time | 3โ4 days (sample Monday by 11 am; report Friday) | 6โ8 weeks |
| Clinical Specificity | Focused on episodic ataxia types 1, 2, and related channelopathies | Broad incidental findings; requires genetic counseling burden |
Physician Insight & Safety Protocols
โThis hotspot panel delivers precise molecular confirmation for patients presenting with recurrent episodes of imbalance, dysarthria, and gait disturbance. A positive result must always be interpreted alongside the clinical phenotype and family pedigree. I recommend a structured tele-consultation following the report to discuss implications for treatment and reproductive planning.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory
โ ๏ธ Do not alter or discontinue any prescribed medication without consulting your managing physician.
Acute changes in therapy can precipitate rebound symptoms. Always coordinate with your neurologist or primary care provider before making adjustments.
Exclusion Criteria & Emergency Red Flags
- Patients with acute neurological decompensation (e.g., sudden ataxia accompanied by fever, altered consciousness, or seizure) โ proceed immediately to emergency care.
- Unconfirmed clinical suspicion of episodic ataxia โ genetic testing should be preceded by a thorough neurology evaluation including imaging and metabolic screening.
- Red flags: abrupt onset ataxia with confusion, head trauma, focal neurologic deficits, or severe nausea/vomiting; call 998 or go to the nearest emergency department.
Patient FAQ & Clinical Guidance
1. What is the Episodic Ataxia Comprehensive Profile (Hotspot Panel)?
This targeted genetic test identifies pathogenic variants in KCNA1, CACNA1A, and other channelopathy genes responsible for episodic ataxia with 99.9% analytical sensitivity. A positive result confirms the molecular diagnosis; however, correlation with clinical symptoms and specialist evaluation remains essential for final diagnosis and management.
2. How is the blood sample collected and transported?
A hospital-grade phlebotomist collects 4 mL of peripheral whole blood in an EDTA tube at your home, maintaining strict cold-chain integrity throughout transport (refrigerated, never frozen). The sample is accompanied by a completed Genomics Clinical Information Requisition Form (Form 20) to ensure full traceability and chain of custody.
3. What is the cost and is insurance coverage available?
The test is priced at 2,000 AED. Direct insurance billing verification is available via WhatsApp at +971 54 548 8731. Many UAE health plans cover genetic testing for confirmed neurological indications; our team will confirm your eligibility before scheduling the appointment.
UAE Regulatory & Data Privacy Adherence
Data Protection & Clinical Governance Framework
- Personal Data Protection: All genetic and clinical data are processed in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Information Security: Data handling adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Medical Liability & Patient Consent: Informed consent and clinical safety protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Laboratory Accreditation: DNA Labs UAE is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and licensed by the Dubai Health Authority (DHA Facility License Number: 1143).
Clinical & Logistical Metadata
| Test Name | Episodic Ataxia Comprehensive Profile (Hotspot Panel) |
| Price (AED) | 2,000 |
| Turnaround Time | 3โ4 days (sample Monday by 11 am; report Friday) |
| Sample Type / Matrix | Peripheral whole blood (4 mL EDTA tube) |
| Methodology Used | Targeted PCR and Sanger sequencing; LC-MS/MS-validated allele discrimination |
| ICD-10-CM Code | G11.8 |
| LOINC Code | 81219-7 |
| DHA Facility License & Address | License: 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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