Test Price
2,800 AED✅ Home Collection Available
ACO2 Gene Cerebellar-Retinal Degeneration, Infantile Genetic Test – 2,800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited NGS processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily 8 AM – 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance from DHA-licensed Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The ACO2 Gene Cerebellar-Retinal Degeneration, Infantile Genetic Test diagnoses autosomal recessive infantile cerebellar-retinal degeneration by sequencing the entire coding region of the ACO2 gene using Next-Generation Sequencing (NGS). This test is essential for confirming clinical suspicion in infants with progressive cerebellar atrophy and retinal dystrophy, enabling early intervention and family counselling.
| Feature | Our Test (DHA-Accredited) | Closest Alternative |
|---|---|---|
| Methodology | NGS (Next-Generation Sequencing) – full gene analysis | Single-gene Sanger or panel without ACO2 |
| Diagnostic Yield | >99% sensitivity for ACO2 mutations | Variable, often <80% if ACO2 not targeted |
| Turnaround Time | 3–4 Weeks | 4–8 Weeks |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403) notes: "Infantile cerebellar-retinal degeneration due to ACO2 mutations is a severe, rapidly progressive disorder. A timely genetic diagnosis not only confirms the condition but also opens doors to reproductive planning and targeted supportive care. Always correlate results with clinical and neuroimaging findings."
Critical Medication Advisory
Do not discontinue any prescribed anticonvulsant, anti-spasticity, or vitamin supplementation without consulting your treating physician. Abrupt cessation may precipitate acute neurological deterioration.
Patient Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: Known interfering bone marrow transplant within last 90 days.
- Exclusion: Active hemolysis or blood transfusion within 2 weeks.
- ER Red Flag: If your child develops new-onset seizures, respiratory distress, or loss of swallowing after sample collection, proceed immediately to the nearest emergency department.
- ER Red Flag: Any signs of severe metabolic decompensation (vomiting, lethargy, hypoglycemia) require urgent medical evaluation.
Patient FAQ & Clinical Guidance
1. How accurate is the ACO2 gene test for infantile cerebellar-retinal degeneration?
Our NGS-based test achieves >99.9% analytical sensitivity for single nucleotide variants and small indels in the ACO2 gene. It detects mutations missed by outdated Sanger sequencing, providing a definitive molecular diagnosis in virtually all biochemically suspected cases.
2. What sample is required and how is it collected at home?
A single blood draw (3–5 mL in EDTA tube) is collected by a DHA-licensed pediatric phlebotomist during our ISO-certified cold-chain home visit. No fasting is needed, and the procedure respects UAE Ministry of Health guidelines for neonatal and infant handling.
3. Can I interpret the results myself or use them for legal/immigration purposes?
Results are reported only through a board-certified clinical geneticist; self-interpretation is strongly discouraged due to complex genotype-phenotype correlations. For legal use, a Medico-Legal addendum is available, and we comply with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 concerning the use of ICT in health fields.
UAE Regulatory & Data Privacy Adherence
Our laboratory operates under DHA Facility License No. 1143 and 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. Clinical safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data is handled with strict confidentiality and stored in compliance with UAE healthcare regulations.
Clinical & Logistical Metadata
| Test Name | ACO2 Gene Cerebellar-Retinal Degeneration, Infantile Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (21–28 calendar days) |
| Sample Type / Matrix | Whole Blood (EDTA tube, 3–5 mL) |
| Methodology Used | Next-Generation Sequencing (NGS) – full coding region analysis |
| ICD-10-CM Code | G31.84, H35.5 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | DHA License Number: 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE Corporate Lab: DNA Labs UAE |
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ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians