Test Price
2,800 AED✅ Home Collection Available
ATP5F1A Gene Combined Oxidative Phosphorylation Deficiency Type 22 Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
Advanced genetic test using Next‑Generation Sequencing (NGS) to detect pathogenic variants responsible for combined oxidative phosphorylation deficiency type 22, achieving 99.9% diagnostic sensitivity through an ISO 9001:2015‑certified laboratory process. The service includes VIP mobile phlebotomy with temperature‑controlled cold‑chain transport, mandatory pre‑test genetic counseling with pedigree mapping, post‑result telephonic interpretation by a Consultant Medical Genetics specialist, and direct insurance billing verification via WhatsApp +971 54 548 8731. Turnaround time is 3 to 4 weeks from sample receipt. Price: 2,800 AED inclusive of home collection within Dubai, Sharjah, and Abu Dhabi.
DHA Facility License No. 1143 | ISO 9001:2015 Certified | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE
Test Overview & Methodology
The ATP5F1A gene encodes the alpha subunit of mitochondrial ATP synthase, the enzyme responsible for generating the majority of cellular ATP. Pathogenic variants in ATP5F1A cause combined oxidative phosphorylation deficiency type 22 (COXPD22), a severe early‑onset metabolic disorder clinically characterized by encephalopathy, hypotonia, lactic acidosis, and failure to thrive. This Next‑Generation Sequencing (NGS) test provides comprehensive coverage of the entire coding region and flanking splice sites, enabling near‑complete variant detection in a single assay with 99.9% analytical sensitivity for single nucleotide variants, small insertions and deletions, and copy number variations.
| Parameter | Our Test (NGS‑Based) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Technology | Next‑Generation Sequencing (Illumina platform, 1000x coverage) | Single‑exon Sanger sequencing, limited to known hot spots |
| Analytical Sensitivity | 99.9% (point mutations, indels, splice sites, CNVs) | ~85% (misses deep intronic variants and CNVs) |
| Turnaround Time | 3 to 4 Weeks | 8 to 12 Weeks |
| Pre‑Test Genetic Counseling | Included (pedigree mapping session with certified counselor) | Often not provided |
| Regulatory Compliance | Federal Decree‑Law No. 45 of 2021 (PDPL), Federal Law No. 2 of 2019 (Health ICT) | May lack comprehensive local legal safeguards |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
"Genetic testing for COXPD22 requires meticulous pre‑ and post‑test counseling. A positive result must always be correlated with clinical and biochemical markers, while a negative result does not definitively exclude mitochondrial disease. I advise every patient to consult a metabolic specialist or neurologist before making any treatment decisions based on these results."
⚠️ Important Medication Advisory: Do not discontinue, alter, or initiate any prescribed medication (including antiepileptics, metabolic co‑factors, or dietary modifications) without explicit instruction from your supervising physician.
Patient Safety: Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: This test is not suitable for individuals unable to provide valid informed consent. For minors, consent must be obtained from a legal guardian in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability. Blood samples must not be collected within 2 weeks of a blood transfusion to avoid DNA contamination.
- Red Flags – Seek Immediate Emergency Care: If the patient experiences sudden neurological deterioration, intractable vomiting, profound lethargy, or seizure activity, proceed to the nearest emergency department without delay. This genetic test is not a substitute for acute medical intervention.
- Privacy & Data Protection: All genetic data is processed and stored in full compliance with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL). Results are released exclusively to the requesting physician or the patient's designated legal guardian.
Patient FAQ & Clinical Guidance
1. What is the ATP5F1A gene test and what does it detect?
This test identifies disease‑causing mutations in the ATP5F1A gene that impair mitochondrial ATP synthesis, enabling accurate diagnosis of combined oxidative phosphorylation deficiency type 22 (COXPD22). Using high‑coverage NGS on an Illumina platform, we sequence all coding exons and flanking splice regions, detecting single nucleotide variants, small deletions and insertions, and copy number variations with 99.9% sensitivity. Variants are classified according to ACMG guidelines and correlated with clinical phenotype.
2. How is the sample collected and what logistics are involved?
A licensed phlebotomist collects a whole blood sample (EDTA tube) during a pre‑arranged home visit using temperature‑controlled cold‑chain transport to preserve DNA integrity. Alternatively, you may submit a pre‑extracted DNA sample or a finger‑prick blood spot on an FTA card. The appointment includes identity verification, mandatory informed consent documentation, and pedigree mapping with a certified genetic counselor. Home collection is available daily from 8 AM to 11 PM.
3. When will results be available and how are they interpreted?
Final results are delivered within 3 to 4 weeks from sample receipt. A post‑test telephonic consultation with our Consultant Medical Genetics specialist is included to explain the variant classification (pathogenic, likely pathogenic, or uncertain significance), discuss clinical implications, outline next steps, and evaluate the need for family cascade testing. The written report is approved by our DHA‑licensed medical team and includes a clinically actionable summary.
4. Is pre‑test genetic counseling mandatory and what does it involve?
Yes, pre‑test genetic counseling is mandatory for all genetic testing under UAE law. A certified genetic counselor will construct a detailed family pedigree to assess inheritance patterns, discuss the benefits and limitations of NGS testing, review potential incidental findings, and obtain written informed consent. This session ensures that the patient understands the scope and implications of the test before proceeding.
UAE Regulatory & Data Privacy Adherence
Data Protection & Regulatory Compliance Framework
All genetic testing and associated data processing at DNA Labs UAE strictly 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 Information and Communication Technology in Health Fields. Patient consent, data minimization, purpose limitation, and the right to access and erasure are fully implemented. Clinical safety and informed consent procedures are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | ATP5F1A Gene Combined Oxidative Phosphorylation Deficiency Type 22 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA tube), Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next‑Generation Sequencing (Illumina platform, 1000x coverage, whole coding region + splice sites) |
| ICD-10-CM Code | E88.49 |
| LOINC Code | 90507-4 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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