Test Price
2,800 AED✅ Home Collection Available
VARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 20 Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189 & ISO 9001:2015 Accredited Processing
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection
- ✓ Clinical Guidance: Telephonic Post-Test Clinical Result Interpretation by DHA-Licensed Consultants
- ✓ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731 (8 AM – 11 PM)
Core Metrics
This advanced NGS-based genetic test detects pathogenic variants in the VARS2 gene associated with combined oxidative phosphorylation deficiency type 20. With a diagnostic sensitivity exceeding 99.9%, the test enables early and precise diagnosis of a severe mitochondrial disorder, providing critical guidance for clinical management and family counselling.
Test Overview & Methodology
The VARS2 gene sequencing test is a definitive molecular diagnostic tool for combined oxidative phosphorylation deficiency type 20 (COXPD20), a severe mitochondrial disorder presenting with infantile encephalopathy, refractory seizures, and lactic acidosis. Our high-depth Next Generation Sequencing (NGS) covers all coding exons, intron‑exon boundaries, and copy number variants, delivering a diagnostic sensitivity exceeding 99.9% for pathogenic variants, far beyond traditional single‑gene methods.
Standardized Methodology Comparison
| Feature | Our VARS2 NGS Test | Conventional Sanger Sequencing |
|---|---|---|
| Target Coverage | Full gene (all exons ±20 bp) + CNV detection | Pre‑selected hotspot exons only |
| Technology | Illumina NovaSeq NGS with dual‑indexing | Dye‑terminator capillary electrophoresis |
| Turnaround Time | 3–4 weeks | 4–6 weeks for complete gene coverage |
| Variant Detection Rate | >99.9% (single nucleotide, small indels, CNVs) | ~95% (point mutations only, misses large rearrangements) |
| Price | 2800 AED | Not commercially available for full gene |
Physician Insight & Safety Protocols
Note from Lina Osama Zaki Quteineh (Consultant Medical Genetics | DHA Registration ID: 9294403): “A positive VARS2 mutation must be correlated with the full clinical picture—lactate/pyruvate ratios, brain MRI, and neurodevelopmental assessment. This test is a powerful diagnostic aid, but a negative result does not exclude mitochondrial disease, as other nuclear or mtDNA genes may be involved. All results should be discussed in a multidisciplinary metabolic clinic.”
⚠️ Medication Advisory
Do not discontinue or alter prescribed anticonvulsants, metabolic supplements, or other medications without consulting your treating physician. Abrupt changes may trigger acute metabolic decompensation. Always seek specialist advice before making any therapeutic adjustments.
Exclusion Criteria & Emergency Red Flags
- Blood transfusion or allogeneic stem cell transplant within the last 6 weeks – postpone collection to avoid donor DNA interference.
- Acute metabolic crisis (pH <7.15, hyperammonemia, or status epilepticus) – stabilise in hospital before elective genetic sampling.
- New‑onset acute encephalopathy, rapid neurodegeneration, or severe refractory seizures: seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What does the VARS2 gene test detect and why is NGS preferred?
This NGS comprehensively detects all classes of pathogenic variants (point mutations, small insertions/deletions, and copy number alterations) across the entire VARS2 gene, achieving >99.9% diagnostic sensitivity for combined oxidative phosphorylation deficiency type 20—far exceeding the limited hotspot coverage of older sequencing methods.
2. How is the sample collected and is home service available in the UAE?
A small blood sample is collected by a DHA-licensed phlebotomist through our VIP Mobile Phlebotomy and temperature‑controlled cold‑chain home collection service, available across all emirates from 8 AM to 11 PM daily. Samples are transported in validated containers to our central accredited laboratory for processing.
3. Can results be used for legal diagnosis or insurance claims in the UAE?
Yes, this test is performed in a DHA-licensed facility (License No. 1143) and the results are recognized by Dubai Health Authority and the Ministry of Health and Prevention. They are suitable for insurance claims and legal medical reports, provided they are interpreted by a qualified specialist.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Compliance Framework
- Strict adherence to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – All patient genetic data is encrypted, stored on local servers, and never shared without explicit consent.
- Compliant with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – Secured electronic health records and telemedicine protocols.
- Clinical safety and patient consent governed by Federal Decree-Law No. 4 of 2016 on Medical Liability – Ensures robust consent processes and accountability.
- Facility License: 1143 | ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | VARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 20 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole Blood (EDTA) – VIP Mobile Phlebotomy & Cold-Chain Home Collection |
| Methodology Used | Next Generation Sequencing (NGS) – Illumina NovaSeq with dual-indexing |
| ICD-10-CM Code | E88.49 (Other disorders of mitochondrial metabolism) |
| LOINC Code | 95209-3 (VARS2 gene mutation analysis) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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