Test Price
2,800 AED✅ Home Collection Available
TRMT5 Gene – Combined Oxidative Phosphorylation Deficiency Type 26 Genetic Test in UAE | 2800 AED | DHA Guidelines
Executive Summary & Core Metrics
This targeted Next-Generation Sequencing (NGS) test analyzes the entire coding region of the TRMT5 gene to identify pathogenic variants causing Combined Oxidative Phosphorylation Deficiency Type 26 (COXPD26), a rare autosomal recessive mitochondrial disorder. The test delivers definitive molecular diagnosis with 99.9% analytical sensitivity, enabling precise clinical management and informed genetic counseling.
Test Overview & Methodology
This targeted Next-Generation Sequencing (NGS) test analyzes the entire coding region and flanking intronic boundaries of the TRMT5 gene to detect pathogenic variants causing Combined Oxidative Phosphorylation Deficiency Type 26 (COXPD26), a rare autosomal recessive mitochondrial disorder characterized by early-onset encephalopathy, cardiomyopathy, and respiratory chain complex deficiencies. The assay employs hybrid capture-based enrichment followed by Illumina sequencing, achieving >99% analytical sensitivity for single nucleotide variants and small insertions/deletions. All clinically significant findings are confirmed via Sanger sequencing to ensure diagnostic certainty before clinical reporting.
| Feature | TRMT5 Targeted NGS | Whole Exome Sequencing (WES) |
|---|---|---|
| Diagnostic Precision | Single-gene resolution – >99% sensitivity for TRMT5 variants including deep intronic regions | Broad survey – may miss deep intronic, regulatory, or copy-number variants |
| Methodology | Targeted NGS with Sanger confirmation of all pathogenic findings | Exome capture and NGS; secondary confirmation often required |
| Turnaround Time | 3–4 Weeks | 6–10 Weeks |
| Clinical Actionability | Immediate genotype–phenotype correlation for COXPD26 enabling targeted management | Incidental findings management required; interpretation complexity higher |
Physician Insight & Safety Protocols
“A positive TRMT5 result provides definitive molecular confirmation of COXPD26, which is essential for accurate prognosis, tailored metabolic management, and informed reproductive counseling. However, the genetic finding must always be interpreted alongside clinical presentation, biochemical markers, and neuroimaging data. This targeted test offers families clarity while avoiding the uncertainties of broad genomic surveys.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory & Clinical Precaution
⚠️ Medication Advisory
Do not discontinue, adjust, or initiate any prescribed therapy—including mitochondrial supplements, anti-epileptics, or metabolic modifiers—without direct consultation with your treating specialist. Genetic results must guide therapy under expert medical supervision to prevent clinical decompensation.
Exclusion Criteria & Emergency Red Flags
- Acute metabolic crisis (severe acidosis, hyperammonemia, hypoglycemia) – stabilize before pursuing genetic testing.
- Current hospitalization for mitochondrial decompensation requires direct specialist consultation prior to sample collection.
- For minors, genetic testing under UAE law requires legal guardian consent and certified genetic counseling before proceeding.
- If a patient experiences sudden neurological deterioration, seizures, or unexplained respiratory distress, seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What is the diagnostic accuracy of this TRMT5 NGS test for COXPD26?
Our targeted NGS assay achieves >99% analytical sensitivity for single nucleotide variants and small insertions/deletions across the entire TRMT5 coding region and flanking intronic boundaries. All clinically significant findings are independently confirmed using Sanger sequencing, providing near-definitive genotype diagnosis with a false-positive rate below 0.1%.
2. What sample type is required and how is it collected?
We accept 2–5 mL of whole blood in EDTA, a purified DNA sample (minimum 1 µg), or a single dried blood spot on an FTA card. A certified phlebotomist collects the sample at your preferred location via temperature-controlled cold-chain transport to preserve nucleic acid integrity. Home collection is available daily from 8 AM to 11 PM.
3. What legal protections safeguard my genetic data in the UAE?
Your genetic data is classified as sensitive personal information under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and is further protected under Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. All data is encrypted at rest and in transit, stored on UAE-based secure servers, and never shared with third parties without your explicit written consent. Clinical testing safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
UAE Regulatory & Data Privacy Adherence
✅ Regulatory Compliance & Data Protection Framework
This genetic test and all associated clinical workflows are conducted in full compliance with UAE federal legislation. Patient genetic data is treated as highly sensitive personal information and processed exclusively under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). All health information systems operate in accordance with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring encrypted storage, secure transmission, and restricted access. Clinical safety, informed consent, and medical liability adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE is fully licensed by the Dubai Health Authority (DHA License No. 1143) and holds ISO 9001:2015 accreditation for quality management in genetic diagnostic services.
Clinical & Logistical Metadata
| Test Name | TRMT5 Gene – Combined Oxidative Phosphorylation Deficiency Type 26 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | E74.81 |
| LOINC Code | 55233-1 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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