Test Price
2,800 AEDโ Home Collection Available
EARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 12 Genetic Test in UAE
Executive Summary & Core Metrics
Executive Summary & 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.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The EARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 12 Genetic Test is a comprehensive next-generation sequencing assay that analyses the full coding region of the EARS2 gene to confirm or rule out the rare mitochondrial disorder combined oxidative phosphorylation deficiency type 12. This test is essential for clinicians evaluating unexplained metabolic decompensation, lactic acidosis, or multisystem involvement in children and adults.
Why Our Test Stands Out
| Feature | Our Test (NGS) | Closest Alternative (Single-Gene Panel) |
|---|---|---|
| Precision | Full gene sequencing with ยฑ0.01% allele frequency sensitivity | Limited to known hotspots; may miss rare variants |
| Methodology | Next Generation Sequencing (NGS) with bioinformatic alignment to GRCh38 | Sanger sequencing or targeted mutation panels |
| Turnaround Time | 3-4 Weeks | 4-6 Weeks |
| Pre-Test Support | Mandatory genetic counselling session included | Not always provided |
Physician Insight & Safety Protocols
โA molecular diagnosis of combined oxidative phosphorylation deficiency type 12 requires careful segregation of variants in the EARS2 gene with the clinical phenotype. While a definitive pathogenic variant provides critical prognostic value, negative results do not exclude mitochondrial disease and warrant broader metabolic or genomic investigation.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Pre-Test Genetic Counselling Advisory
A mandatory genetic counselling session is conducted prior to sample collection to ensure informed consent, discuss potential implications of positive, negative, or uncertain results, and review family history. This aligns with international standards for predictive genetic testing and UAE regulations on medical liability.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria:
- Test not indicated for asymptomatic minors without parental/guardian informed consent in line with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Inability to provide adequate clinical history or family pedigree.
- Active haemodynamic instability requiring immediate resuscitation.
ER Red Flags:
- Acute metabolic crisis: vomiting, lethargy, rapid breathing, or seizures.
- Unexplained hypoglycaemia or severe lactic acidosis.
- Suspected mitochondrial stroke-like episode.
Patient FAQ & Clinical Guidance
1. What is the EARS2 gene test and why is it done?
This test sequences the entire EARS2 gene to identify disease-causing mutations responsible for combined oxidative phosphorylation deficiency type 12, a severe mitochondrial disorder. It is performed to confirm a clinical suspicion when a patient presents with unexplained lactic acidosis, failure to thrive, and neurological regression.
2. How is the test performed and what sample is required?
A single blood sample (3-5 mL whole blood in EDTA tube) or DNA extracted from blood can be used; a dried blood spot on FTA card is also acceptable, enabling our VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection service. The sample is processed via NGS technology and analysed with bioinformatic pipelines to detect single nucleotide variants and small insertions/deletions.
3. What do the results mean and how will they affect my care?
A positive report identifies a known or likely pathogenic variant in EARS2, confirming the diagnosis and allowing targeted management, including metabolic dietary interventions and cofactor supplementation. A negative result reduces the likelihood of this specific deficiency but does not exclude other mitochondrial diseases, so further testing may be advised.
UAE Regulatory & Data Privacy Adherence
100% UAE Regulatory Compliance
This service fully 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. Our laboratory operates under DHA Facility License No. 1143 and is certified ISO 9001:2015. Direct billing verification and genetic counselling appointments are available via WhatsApp at +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | EARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 12 Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3-4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) |
| Methodology Used | Next Generation Sequencing (NGS), Bioinformatic Alignment to GRCh38 |
| ICD-10-CM Code | E88.49 (Mitochondrial metabolism disorder) |
| LOINC Code | 90263-4 (DNA sequencing) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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