Test Price
2,800 AED✅ Home Collection Available
COA5 Gene Genetic Test for Fatal Infantile Cardioencephalomyopathy (COX Deficiency Type 3) in UAE | 2,800 AED | DNA Labs UAE
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) accredited Next Generation Sequencing with orthogonal Sanger confirmation.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM, with paediatric-trained phlebotomists.
Clinical Guidance: Mandatory pre-test telephonic genetic counselling with a DHA-licensed consultant medical geneticist to review pedigree, inheritance pattern, and obtain informed consent.
Insurance Direct Billing: Verify coverage via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The COA5 Genetic Test definitively diagnoses fatal infantile cardioencephalomyopathy due to cytochrome c oxidase (COX) deficiency type 3, a severe mitochondrial disorder presenting in early infancy with encephalopathy, cardiomyopathy, and metabolic crisis. This NGS-based analysis interrogates the entire coding region and conserved splice sites of the COA5 gene, with all pathogenic and likely pathogenic variants confirmed by bidirectional Sanger sequencing to achieve 99.9% analytical sensitivity. The test is indicated for infants presenting with unexplained hypotonia, lactic acidosis, feeding difficulty, and cardiac hypertrophy, enabling precise molecular confirmation for targeted management and family counselling.
| Feature | Our Test (NGS + Sanger) | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Diagnostic Precision | 99.9% analytical sensitivity; full gene coverage incl. deep intronic variants and CNV detection | ~95% sensitivity; may miss large deletions, duplications, and deep intronic variants |
| Methodology | Next Generation Sequencing (NGS) with orthogonal Sanger confirmation | Conventional Sanger sequencing only |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
"The COA5 gene test is essential for confirming the molecular diagnosis of fatal infantile cardioencephalomyopathy due to COX deficiency type 3. Identification of biallelic pathogenic variants in COA5 provides definitive molecular confirmation, enabling accurate recurrence risk counselling for families and guiding early intervention strategies. Results must always be interpreted in conjunction with clinical presentation, biochemical markers, and a three-generation pedigree analysis. Pre-test counselling is mandatory to ensure families fully understand the implications of a genetic diagnosis in a critically ill infant."
Medication Advisory & Clinical Precautions
Medication Warning
Do not discontinue prescribed cardiac support, anticonvulsant therapy, or metabolic cofactors (such as riboflavin, coenzyme Q10, or L‑carnitine) without direct consultation with the managing specialist. Abrupt withdrawal of cardiac inotropes or anticonvulsants may precipitate fatal arrhythmia, status epilepticus, or acute metabolic decompensation in infants with underlying mitochondrial dysfunction.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Infants with severe hemodynamic instability or acute metabolic decompensation requiring intensive care — do not delay emergency management for test collection; schedule venipuncture only when clinically stable.
- Inability to obtain informed consent from a legally authorized representative following mandatory pre-test genetic counselling.
Emergency Red Flags
- Immediate medical attention required: New‑onset respiratory distress, profound bradycardia (<60 bpm), status epilepticus, or sudden loss of consciousness. These are life‑threatening signs of the underlying disorder and are not manageable via teleconsultation alone.
- If any of these signs develop while awaiting test results, present to the nearest emergency department without delay.
Patient FAQ & Clinical Guidance
1. What is the COA5 gene test for cardioencephalomyopathy?
This NGS-based genetic test analyzes the entire coding region and splice sites of the COA5 gene to identify pathogenic mutations responsible for fatal infantile cytochrome c oxidase deficiency type 3. It provides a definitive molecular diagnosis for infants presenting with encephalopathy, cardiomyopathy, and metabolic crisis.
2. How is the sample collected and what is the turnaround time?
A certified paediatric phlebotomist collects a venous blood sample (2–3 mL in EDTA) or a single drop of blood on an FTA card at your home via our VIP Mobile Phlebotomy service, available daily from 8 AM to 11 PM. Results are delivered within 3 to 4 weeks from sample receipt at the laboratory.
3. Is genetic counselling included before the test?
Yes, a mandatory pre-test genetic counselling session is provided virtually by a DHA-licensed Consultant Medical Geneticist. The session covers inheritance patterns, clinical implications of possible results, and includes construction of a three-generation pedigree. Informed consent is obtained before sample collection, in compliance with UAE regulations for genetic testing of minors.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Health Data Protection: All genetic data and personal information are processed 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. Clinical testing safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and operates under the regulatory oversight of the Dubai Health Authority. Genetic testing for minors is conducted with the highest standards of confidentiality and ethical compliance.
Clinical & Logistical Metadata
| Test Name | COA5 Gene Genetic Test (Fatal Infantile Cardioencephalomyopathy, COX Deficiency Type 3) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or FTA Card Dried Blood Spot |
| Methodology Used | Next Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | E88.49 |
| LOINC Code | 30373-6 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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