Test Price
2,800 AED✅ Home Collection Available
DGUOK Gene Mitochondrial DNA Depletion Syndrome Genetic Test in UAE | 2,800 AED | DHA-Compliant Diagnostics
Executive Summary & Core Metrics
Fast-Track Genetic Diagnosis with UAE-Compliant Precision
The DGUOK Gene Mitochondrial DNA Depletion Syndrome Genetic Test utilises Next-Generation Sequencing (NGS) technology to detect pathogenic mutations causing mitochondrial DNA depletion syndrome linked to the deoxyguanosine kinase gene. Performed at DNA Labs UAE under stringent DHA regulatory oversight, this assay delivers 99.9% diagnostic sensitivity through bidirectional sequencing and comprehensive copy number variation analysis. The test is specifically designed for infants, children, and adults presenting with hepatocerebral or encephalomyopathic phenotypes, supported by VIP mobile phlebotomy with temperature-controlled cold-chain logistics and a complimentary post-result teleconsultation with a board-certified clinical geneticist.
- ✓ Diagnostic Accuracy: 99.9% sensitivity via ISO-accredited NGS processing with bidirectional sequencing and copy number analysis.
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- ✓ Clinical Guidance: Complimentary telephonic post-test result interpretation session with a consultant medical geneticist.
- ✓ Insurance: Direct billing verification via WhatsApp at +971 54 548 8731 (responds within 2 hours).
Test Overview & Methodology
The DGUOK Gene NGS Test provides comprehensive analysis of the deoxyguanosine kinase gene, confirming mitochondrial DNA depletion syndrome (hepatocerebral or encephalomyopathic type) with single-nucleotide resolution. This assay detects single nucleotide variants, small insertions and deletions, and copy number variations across all coding exons and flanking intronic regions. The test serves as the molecular gold standard for confirming the autosomal recessive inheritance pattern of this severe metabolic disorder, enabling precise genotype-phenotype correlation for enzyme replacement eligibility assessment, liver transplant urgency stratification, and informed family planning.
| Feature | Our Test – NGS Advantage | Closest Alternative – Single-Gene Sequencing |
|---|---|---|
| Technology | Next-Generation Sequencing (NGS) with full DGUOK gene coverage including intronic boundaries | Sanger sequencing (exons only, limited intron boundaries) |
| Diagnostic Sensitivity | 99.9% (includes deep intronic variants & copy number changes) | ~85–90% (misses large deletions and duplications) |
| Turnaround Time | 3–4 weeks from receipt of sample | 4–6 weeks (often requires secondary MLPA testing) |
| Clinical Utility | Directs enzyme replacement eligibility, liver transplant urgency, and family planning decisions | Limited genotype-phenotype correlation; often necessitates re-analysis |
Physician Insight & Safety Protocols
“As a consultant medical geneticist specialising in inherited metabolic disorders, I recognise the critical diagnostic window for confirming DGUOK-related mitochondrial DNA depletion syndrome. This NGS-based test provides definitive molecular confirmation essential for guiding clinical management, including liver transplant evaluation and metabolic support strategies. However, genetic test results must always be interpreted alongside liver enzyme profiles, plasma lactate levels, and neuroimaging findings. It is imperative that patients and families never discontinue prescribed mitochondrial cocktail therapies, anticonvulsants, or supportive medications without direct supervision from the treating metabolic specialist, as abrupt cessation may precipitate a metabolic crisis. Should acute neurological deterioration, jaundice, or metabolic decompensation occur, proceed immediately to the nearest emergency department.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication & Safety Advisory
⚠ Critical Medication Warning
Do not discontinue any prescribed medication (including sodium valproate, dichloroacetate, coenzyme Q10, or other mitochondrial cocktail components) without explicit authorisation from your treating metabolic physician. Genetic test results serve as diagnostic information and are not acute management directives. Always consult your specialist before making any changes to ongoing therapy.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Exclusion: Samples collected without proper genetic counselling session and pedigree documentation.
- Exclusion: Minors under 18 years lacking legal guardian consent as mandated by UAE Federal Law.
- Exclusion: Clotted or haemolysed blood samples; FTA card with insufficient blood spot coverage.
Emergency Red Flags
- Red Flag: Acute metabolic decompensation characterised by rapid onset of lethargy, vomiting, hypoglycaemia, or tachypnoea – seek emergency care immediately; do not wait for genetic test results.
- Red Flag: Severe lactic acidosis (pH <7.2) or liver dysfunction with coagulopathy requiring urgent hospital admission.
- Red Flag: New-onset status epilepticus or progressive encephalopathy – call 998 for ambulance transport.
Patient FAQ & Clinical Guidance
1. What is the DGUOK Gene Mitochondrial DNA Depletion Syndrome Genetic Test?
This advanced genetic test uses next-generation sequencing to comprehensively analyse the DGUOK gene, detecting single nucleotide variants, small insertions and deletions, and copy number variations that cause mitochondrial DNA depletion syndrome. This autosomal recessive disorder primarily affects the liver and brain, leading to hepatocerebral or encephalomyopathic manifestations. The test provides definitive molecular diagnosis essential for guiding metabolic management, liver transplant evaluation, and family counselling.
2. Who should consider having this test, and when is it medically indicated?
The test is medically indicated for infants, children, and adults presenting with elevated liver transaminases, neurological regression, hypotonia, or lactic acidosis where mitochondrial hepatopathy or encephalomyopathy is suspected. It is also recommended for asymptomatic siblings and relatives for carrier screening following identification of a confirmed familial mutation. Early molecular diagnosis enables timely intervention including metabolic support, enzyme replacement eligibility assessment, and accurate genetic counselling for reproductive planning.
3. How is the sample collected, and what is the process from booking to result?
A DHA-licensed phlebotomist collects 2 mL of whole blood in a K2-EDTA tube or a few drops on an FTA card during a scheduled home visit between 8 AM and 11 PM. The specimen is transported using a validated temperature-controlled cold chain to DNA Labs UAE. The signed clinical report is delivered via secure email within 3–4 weeks, followed by a complimentary teleconsultation with a consultant medical geneticist for result interpretation and clinical guidance.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License Number 1143 and strictly adheres to all applicable UAE federal regulations governing patient data protection and clinical laboratory practices. All genetic data generated through this test is processed and stored in 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. Patient consent protocols and clinical safety standards are fully aligned with Federal Decree-Law No. 4 of 2016 on Medical Liability. Results are released exclusively to the ordering physician and the patient through encrypted digital channels, ensuring absolute confidentiality and regulatory compliance throughout the diagnostic pathway.
Clinical & Logistical Metadata
| Test Name | DGUOK Gene Mitochondrial DNA Depletion Syndrome Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Whole blood (K2-EDTA tube, 2 mL) or FTA card (dried blood spots) |
| Methodology Used | Next-Generation Sequencing (NGS) with full DGUOK gene coverage including copy number variation analysis |
| ICD-10-CM Code | E88.49 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | DHA License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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