Test Price
2,800 AED✅ Home Collection Available
NDUFA2 Gene Leigh Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited next-generation sequencing (NGS) pipeline for full coding regions and splice sites.
Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM across all UAE emirates.
Clinical Guidance: Telephonic post-test result interpretation and genetic counselling provided by our consultant medical genetics team.
Insurance: Direct billing verification via WhatsApp at +971 54 548 8731; submit your policy details for real-time coverage checking.
Test Overview & Methodology
The NDUFA2 gene full-sequencing assay detects pathogenic variants associated with Leigh syndrome, a severe mitochondrial neurodegenerative disorder presenting in infancy or early childhood. Using NovaSeq-grade next-generation sequencing, this test delivers definitive molecular diagnosis essential for clinical management, metabolic therapy planning, and family genetic counselling. The assay interrogates all coding exons and conserved splice-site boundaries with 99.9% analytical sensitivity and specificity.
| Feature | Our NGS Test (ISO 9001:2015) | Sanger Sequencing (Alternative) |
|---|---|---|
| Precision | Full coding region and splice sites – 99.9% analytical sensitivity, detects low-level mosaicism | Limited to single-variant confirmation; lower sensitivity for mosaic or heterogeneous mutations |
| Method | Next-Generation Sequencing (NovaSeq-grade, paired-end 150 bp) | Sanger capillary electrophoresis (single-exon targeted) |
| Speed | 3–4 weeks | 6–8 weeks when multiple exons require iterative sequencing |
Physician Insight & Safety Protocols
"Molecular confirmation of a pathogenic NDUFA2 variant provides the cornerstone for tailored metabolic intervention and reproductive genetic counselling. This NGS-based assay must be interpreted within the full clinical context, including neurological examination, neuroimaging findings, and biomarker profiles. A negative result does not rule out other mitochondrial disorders, and ongoing multidisciplinary follow-up remains critical. Continue all prescribed therapies unless explicitly directed otherwise by your treating physician."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue, alter, or adjust any prescribed medications—including antiepileptic drugs, metabolic supplements, or cofactor therapies—without explicit instruction from your managing physician. Abrupt changes may precipitate clinical deterioration.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: Blood collection is deferred during acute febrile illness or within two weeks of a blood transfusion, as these may compromise DNA yield and assay accuracy.
- Minors: Written informed consent from a parent or legal guardian is mandatory. Testing must be requested by a DHA-licensed paediatric neurologist or geneticist, in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability and the UAE Federal Law No. 2 of 2019 on health data governance.
- Emergency Warning: If the patient experiences sudden neurological decline, recurrent seizures, unexplained respiratory distress, inconsolable crying, vomiting with deep rapid breathing (Kussmaul pattern), or signs of metabolic acidosis, seek immediate emergency medical care regardless of pending test results.
Patient FAQ & Clinical Guidance
1. What does a positive NDUFA2 mutation mean for my child?
A confirmed pathogenic variant in the NDUFA2 gene establishes a molecular diagnosis of Leigh syndrome—a progressive mitochondrial disorder requiring coordinated care from neurology, metabolic medicine, and clinical genetics. Early diagnosis enables targeted supplementation (e.g., thiamine, coenzyme Q10, riboflavin) and informed family planning options.
2. How accurate is this genetic test for Leigh syndrome?
Our NGS assay delivers 99.9% analytical sensitivity and specificity across all coding exons and flanking splice sites of the NDUFA2 gene. The test is validated under ISO 9001:2015 quality management and uses DHA-approved bioinformatics pipelines for variant calling and classification.
3. Can this test be performed with a home blood collection?
Yes. A certified mobile phlebotomy team will visit your home across all UAE emirates daily from 8 AM to 11 PM. Blood samples are transported under temperature-controlled cold-chain logistics to our CAP-accredited laboratory in Dubai Healthcare City.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates in full compliance with the following UAE federal statutes:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governs the lawful collection, processing, and storage of personal health information.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – regulates digital health records and telemedicine frameworks.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – establishes standards for informed consent, clinical safety, and professional accountability.
All genetic data is processed within secure, ISO 9001:2015 certified infrastructure (Certificate: INT/EGQ/2509DA/3139). No raw sequencing data is shared with third parties without explicit patient consent as required by PDPL.
Clinical & Logistical Metadata
| Test Name | NDUFA2 Gene Leigh Syndrome Sequencing (Full Coding Regions & Splice Sites) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA tube, 3–5 mL) |
| Methodology Used | Next-Generation Sequencing (NovaSeq-grade, paired-end 150 bp, >100x depth) |
| ICD-10-CM Code | G31.82 (Leigh Syndrome), Z13.89 (Encounter for screening for genetic disorders) |
| LOINC Code | 91247-9 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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