Test Price
2,800 AED✅ Home Collection Available
COX15 Gene Sequencing for Fatal Infantile Cardioencephalomyopathy (Cytochrome c Oxidase Deficiency Type 2) in UAE | 2,800 AED | DHA Licensed Facility
Executive Summary & Core Metrics
✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Certified NGS and Confirmatory Sanger Sequencing.
✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
✓ Clinical Guidance: Post-test telephonic clinical guidance included for result interpretation and genetic counselling.
✓ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
COX15 Gene Testing identifies pathogenic variants in the COX15 gene responsible for fatal infantile cardioencephalomyopathy, a severe mitochondrial disorder caused by cytochrome c oxidase deficiency type 2. This NGS-based assay provides definitive molecular diagnosis, enabling precise genetic counselling, early intervention, and informed family planning for affected families across the UAE.
| Feature | Our Test (Precision Medicine) | Closest Alternative (Standard Sanger) |
|---|---|---|
| Methodology | Next‑Generation Sequencing (Illumina) with CNV detection + orthogonal confirmation | Single‑variant Sanger sequencing (locus‑specific) |
| Diagnostic Sensitivity | >99.9% for coding region & splice sites | ~90% if variant known; misses novel/rare variants |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks (when requiring multiple custom probes) |
| Sample Types | Whole Blood, Extracted DNA, FTA Card Blood Spot | Blood or Extracted DNA only |
| Regulatory | DHA Licensed | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | Variable |
Physician Insight & Safety Protocols
“Early genetic confirmation of COX15-related cardioencephalomyopathy is a pivotal step in guiding supportive cardiac and neurologic management while empowering families with accurate recurrence risk information. I strongly recommend correlating these results with mitochondrial enzyme assays and imaging, and always involving a clinical geneticist in the care pathway.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory Notice
Medication Warning
Do not discontinue any prescribed medication or supplement without explicit instruction from your treating consultant. This test result does not replace urgent clinical assessment.
Exclusion Criteria & Emergency Red Flags
- Exclusion: This targeted test is not recommended for asymptomatic adults without a confirmed family mutation or strong clinical suspicion of COX15 deficiency. Pre‑test genetic counselling is mandatory.
- Red Flags: If the patient (especially an infant) develops acute respiratory failure, refractory seizures, or signs of heart failure, seek immediate emergency medical attention. The test result does not replace urgent clinical assessment.
- Genetic testing of minors requires documented informed consent from a legal guardian in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability. All patient data is protected under UAE PDPL.
Patient FAQ & Clinical Guidance
1. What is the COX15 gene and the condition it causes?
The COX15 gene provides instructions for assembling cytochrome c oxidase, a critical mitochondrial enzyme. Harmful variants in this gene cause fatal infantile cardioencephalomyopathy type 2, a severe mitochondrial disorder characterised by progressive heart and brain dysfunction in early infancy.
2. How is the test performed and what sample is needed?
A certified phlebotomist collects a small blood sample, extracted DNA, or a single drop on an FTA card from the comfort of your home via our VIP Mobile Phlebotomy service. The specimen is analysed using high‑throughput Next‑Generation Sequencing with confirmatory Sanger sequencing in our ISO-certified laboratory.
3. How accurate is this test and can it be used for family screening?
Our NGS assay achieves 99.9% diagnostic sensitivity for all known pathogenic COX15 variants, making it highly reliable for confirming an affected child and subsequently testing at‑risk relatives for carrier status. Pre‑test and post‑test genetic counselling is recommended for all family members considering screening.
UAE Regulatory & Data Privacy Adherence
Data Protection & Privacy: All genetic and personal data is processed and stored in full 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.
Medical Liability & Consent: Clinical genetic testing, including sample collection and result disclosure, is governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Informed consent is obtained from every patient or legal guardian before specimen collection and genetic analysis.
Clinical Governance: Our laboratory operates under DHA Facility License No. 1143 and adheres to ISO 9001:2015 quality management standards. Results are reviewed and authorised by licensed clinical geneticists.
Clinical & Logistical Metadata
| Test Name | COX15 Gene Sequencing for Fatal Infantile Cardioencephalomyopathy (Cytochrome c Oxidase Deficiency Type 2) |
| Price (AED) | 2,800 |
| Turnaround Time | 21-28 Days (3–4 Weeks) |
| Sample Type / Matrix | Whole Blood, Extracted DNA, FTA Card Blood Spot |
| Methodology Used | Next-Generation Sequencing (Illumina) with Confirmatory Sanger Sequencing |
| ICD-10-CM Code | E88.49, I42.8, G93.40 |
| LOINC Code | 94196-5 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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