Test Price
2,800 AED✅ Home Collection Available
NARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 24 Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
ISO 9001:2015Executive Summary
- 99.9% Diagnostic Sensitivity — ISO-accredited NGS processing (Cert: INT/EGQ/2509DA/3139) eliminates false negatives.
- Premium Home Collection — VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM.
- Post-Test Clinical Guidance — Complimentary telephonic result interpretation by a DHA-licensed Consultant Medical Geneticist.
- Direct Billing Verification — WhatsApp +971 54 548 8731 for instant insurance confirmation.
Legal & Regulatory Compliance:
Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) | Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields | Federal Decree-Law No. 4 of 2016 on Medical Liability | DHA Facility License: 1143.
Clinical Indications: Suspected mitochondrial cytopathy, multisystem failure, lactic acidosis, developmental regression, or failure to thrive with neurological involvement.
DHA Facility License: 1143 | Laboratory: DNA Labs UAE | Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
Test Overview & Methodology
Clinical Rationale
The NARS2 gene encodes the mitochondrial asparaginyl-tRNA synthetase, essential for mitochondrial protein synthesis. Pathogenic variants cause Combined Oxidative Phosphorylation Deficiency Type 24 (COXPD24), an autosomal recessive disorder presenting with severe neonatal lactic acidosis, hypertrophic cardiomyopathy, encephalopathy, and early mortality. This targeted NGS assay provides definitive molecular diagnosis to guide reproductive counselling and management planning.
Methodology
Next‑Generation Sequencing (NGS) on the Illumina platform with >100x average coverage across all coding exons and flanking splice junctions of the NARS2 gene. All clinically significant variants are confirmed via Sanger sequencing. Bioinformatics analysis adheres to ACMG/AMP 2015 guidelines with ClinVar and gnomAD population frequency filters.
| Feature | Our Test (COXPD24 NGS) | Closest Alternative (Mitochondrial Panel) |
|---|---|---|
| Precision | 99.9% analytical sensitivity & specificity for NARS2 mutations | ~90% – panel lacks full NARS2 coverage |
| Method | NGS with Sanger confirmation of all variants | Targeted NGS of 20‑gene mitochondrial panel |
| Turnaround | 3–4 weeks (urgent option 14 days) | 6–8 weeks |
| DHA Accreditation | Yes (Facility License 1143) | Varies |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Geneticist, I emphasize that a positive result for a pathogenic NARS2 variant requires correlation with clinical phenotype, biochemical markers including lactate and amino acid profiles, and neuroimaging findings. A negative result does not exclude COXPD24; further functional studies such as mitochondrial respiratory chain enzyme analysis may be indicated. Please continue all prescribed therapies until you discuss findings with your treating specialist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication & Treatment Continuity
Never discontinue prescribed medication without consulting your doctor. Abrupt withdrawal of anticonvulsants, corticosteroids, or metabolic supplements can trigger acute metabolic decompensation in patients with mitochondrial disease. Discuss any changes with your metabolic specialist before proceeding.
Exclusion Criteria & Emergency Red Flags
- Avoid home collection if patient has an active febrile illness or uncontrolled seizures.
- Pediatric patients require a legal guardian present during the blood draw.
- ER Red Flags: Sudden onset of metabolic acidosis, respiratory distress, or loss of consciousness after sample collection — seek immediate emergency care and inform the laboratory.
Patient FAQ & Clinical Guidance
1. What is the standard turnaround time for the NARS2 genetic test, and can I request expedited processing?
The standard turnaround time is 3–4 weeks from sample receipt. A 14‑day urgent processing option is available for critically ill patients upon written request from the referring physician. Our clinical team will prioritise samples with documented metabolic crisis or impending clinical deterioration.
2. Which specialists should be involved in interpreting and actioning the genetic result?
The result must be reviewed collaboratively by a Consultant Medical Geneticist, a Metabolic Specialist, and the referring General Physician. Our service includes a complimentary 15‑minute telephonic consultation with a DHA‑licensed genetic counsellor to bridge the path from variant classification to a personalised care plan.
3. Does this test detect mitochondrial DNA (mtDNA) abnormalities in addition to nuclear gene variants?
No, this test targets exclusively the nuclear NARS2 gene on chromosome 15. If mitochondrial DNA depletion or multiple deletions are suspected, we recommend parallel sequencing of the mitochondrial genome and analysis of mtDNA copy number. Our laboratory offers a combined nuclear-mitochondrial panel separate from this single‑gene test.
4. What sample types are accepted, and how should the specimen be collected?
Whole blood collected in EDTA tube (3–5 mL) is the preferred specimen. Extracted DNA (>2 µg at >50 ng/µL) or dried blood spots on FTA cards are also accepted. All samples must be transported at 2–8°C via ISO‑certified cold‑chain courier. Our VIP phlebotomy team can collect at your home between 8 AM and 11 PM daily.
5. Is pre-test genetic counselling mandatory before this test can be performed?
Yes, a mandatory pre‑test genetic counselling session (in‑person or via telehealth) is required to document a three‑generation pedigree, discuss inheritance patterns, potential outcomes, and obtain written informed consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
UAE Regulatory & Data Privacy Adherence
Data Protection & Compliance Framework
All genetic data generated by DNA Labs UAE is processed and stored in full 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 information is encrypted at rest and in transit, with access restricted to authorised clinical personnel only. Our laboratory holds ISO 9001:2015 certification (INT/EGQ/2509DA/3139) and operates under DHA Facility License 1143. No genetic data is shared with third parties without explicit written patient consent, as mandated by UAE health data governance regulations.
Clinical & Logistical Metadata
| Test Name | NARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 24 Genetic Test (Single Gene NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks (urgent option: 14 days) |
| Sample Type / Matrix | Whole blood (EDTA, 3–5 mL), extracted DNA (>2 µg), or dried blood spot (FTA card) |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger confirmation of clinically significant variants |
| ICD-10-CM Code | E88.49 (Other mitochondrial disorders), E88.8 (Other specified metabolic disorders), Z15.89 (Genetic susceptibility to other disease) |
| LOINC Code | 86211-9 (Hereditary genetic testing NGS panel) |
| DHA Facility License & Laboratory Address | License No. 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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