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2,800 AED

✅ Home Collection Available

ATP8A2 Gene Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome Type 4 (CAMRQ4) Genetic Test in UAE | AED 2,800

Executive Summary & Core Metrics

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: Telephonic Post‑Test Clinical Guidance in result interpretation by a DHA‑licensed physician.
  • Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The ATP8A2 Genetic Test sequences the entire coding region of the ATP8A2 gene to identify pathogenic variants responsible for cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 4 (CAMRQ4). This definitive molecular diagnosis supports family planning, early intervention, and personalized neurological care.

Feature Our Test – ATP8A2 NGS Closest Alternative (Single‑Gene Sanger)
MethodologyNext‑Generation Sequencing (NGS) with 100% coverage of coding exons ±20 bpSanger sequencing, limited to hotspot regions
Detection Rate>99% for point mutations, small indels, and copy number variants~95% for known point mutations only
Turnaround Time3–4 weeks6–8 weeks
Pre‑Test RequirementDHA‑compliant genetic counseling and pedigree analysisNone mandated
Regulatory ComplianceFederal Decree‑Law No. 45 of 2021 (PDPL), Federal Law No. 2 of 2019, ISO 9001:2015Variable

Physician Insight & Safety Protocols

“As a Consultant Medical Genetics at DNA Labs UAE, I emphasise that this test must be interpreted in the full clinical context. A positive result clarifies the genetic basis and guides prognostic counselling, while a negative result may warrant broader genomic investigation. My team and I provide post‑test telephonic guidance to help you understand the implications for your child or family member.”

– Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

⚠️ Clinical Advisory: Do Not Discontinue Medications

Do not discontinue any prescribed medication or alter a therapeutic regimen without consulting your treating physician. Genetic testing information does not replace ongoing medical care.

Safety Exclusion Criteria & Emergency Red Flags

  • Exclusion Criteria: This test is not suitable for acute neurological emergencies; it requires a stable outpatient setting. It must not be used as a standalone prenatal diagnostic without formal genetic counselling. Patients with known bleeding disorders require special venous access care.
  • ER Red Flags: Seek immediate medical attention if the individual experiences sudden loss of coordination, continuous seizures, altered consciousness, or difficulty breathing.

Patient FAQ & Clinical Guidance

1. What is the ATP8A2 gene test and who should consider it?

The ATP8A2 NGS test sequences the entire coding region to detect pathogenic variants causing cerebellar ataxia, intellectual disability, and balance disorders. It is recommended for individuals with early‑onset gait ataxia, developmental delay, or a family history of CAMRQ4. A clinical geneticist or paediatric neurologist should assess candidacy.

2. How should I prepare for the ATP8A2 test and is genetic counseling required?

Preparation includes a mandatory genetic counselling session to construct a pedigree and discuss the test’s scope, possible outcomes, and psychological impact. No fasting or medication adjustment is needed; a simple blood draw or saliva sample completes the collection.

3. What do the results mean and what is the turnaround time?

A positive report identifies a known or likely pathogenic variant in ATP8A2, confirming CAMRQ4 and enabling precise recurrence risk counselling. A negative result reduces the probability of this specific disorder but may necessitate broader genomic testing. The turnaround time is 3 to 4 weeks from sample receipt; you will receive a telephonic interpretation call.

UAE Regulatory & Data Privacy Adherence

DNA Labs UAE operates under DHA Facility License No. 1143. All genetic testing adheres to 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 processed under ISO 9001:2015 quality management. Clinical safety and patient consent align with Federal Decree‑Law No. 4 of 2016 on Medical Liability.

Clinical & Logistical Metadata

Test Name ATP8A2 Gene (CAMRQ4) Genetic Test
Price (AED) 2,800
Turnaround Time 3–4 weeks
Sample Type / Matrix Peripheral whole blood (EDTA) or saliva
Methodology Used Next‑Generation Sequencing (NGS) – full coding exons ±20 bp
ICD-10-CM Code G11.8
LOINC Code 81313-4
DHA Facility License & Address DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE

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