Test Price
2,800 AED✅ Home Collection Available
VDAC1 Gene Mitochondrial Encephalopathy Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Diagnostic Sensitivity: 99.9% via ISO 9001:2015 Certified Processing (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
Clinical Guidance: Post-test clinical correlation and result interpretation by DHA-licensed Consultant Medical Genetics.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Lab Facility: DNA Labs UAE | DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Test Overview & Methodology
This next-generation sequencing test analyzes the entire coding region of the VDAC1 gene to detect pathogenic variants associated with mitochondrial encephalopathy. The assay provides targeted high-depth coverage of all exons and intron-exon boundaries, enabling precise identification of single nucleotide variants and small insertions or deletions that impair mitochondrial pore function.
This test is indicated for patients presenting with unexplained neurological regression, treatment-resistant seizures, or multisystem mitochondrial symptoms, and for at-risk family members undergoing cascade screening.
| Feature | VDAC1 NGS Targeted Test | Whole Exome Sequencing (Alternative) |
|---|---|---|
| Target Coverage | 100% targeted coverage of VDAC1 exons with >1000× depth | Genome-wide coverage; VDAC1 may have lower average depth (~100×) |
| Method | NGS (Illumina® platform) with Sanger confirmation of all detected variants | NGS + optional Sanger validation (additional cost) |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks typical |
| Cost | 2,800 AED | 4,500–6,000 AED |
Physician Insight & Safety Protocols
"A positive VDAC1 variant must be interpreted within the full clinical context, including detailed phenotyping and family segregation studies. This targeted genetic assay is a powerful diagnostic adjunct but does not replace a comprehensive neurological and metabolic workup. Correlation with imaging, biochemical markers, and electrophysiological data remains essential."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory
Do not alter or discontinue any prescribed anticonvulsants, mitochondrial supplements, or other therapies without explicit instruction from your treating neurologist or metabolic specialist.
Exclusion Criteria for Home Collection
- Patient is haemodynamically unstable (systolic BP < 90 mmHg, heart rate > 120 bpm).
- Active seizure within the past 30 minutes prior to collection.
- Known bleeding diathesis or platelet count < 50,000/µL.
Emergency Red Flags – Immediate Medical Attention Required
- New-onset loss of consciousness or prolonged seizure (>5 minutes).
- Sudden respiratory distress or cyanosis.
- Suspected stroke-like episode with focal neurological deficit.
Patient FAQ & Clinical Guidance
1. What does the VDAC1 NGS test detect?
The test identifies single nucleotide variants and small insertions or deletions throughout the VDAC1 gene that are known to impair mitochondrial voltage-dependent anion channel function, leading to encephalopathy. A negative result does not exclude mitochondrial disease caused by variants in other nuclear or mitochondrial genes.
2. How is the sample collected and what preparation is required?
A certified phlebotomist will collect 3–5 mL of whole blood in an EDTA tube during a scheduled home visit. Alternatively, a dried blood spot (FTA card) may be provided after mandatory pre-test genetic counselling. Pre-test requirement: A genetic counselling session to document a three-generation pedigree and obtain informed consent. You must share a detailed clinical history including neurological symptom onset, seizure semiology, and prior biochemical or imaging results.
3. How accurate and reliable is the test under UAE regulations?
The laboratory operates under ISO 9001:2015 accreditation and complies 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. All genetic reports are reviewed by the Consultant Medical Genetics before final release. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
UAE Regulatory & Data Privacy Adherence
Data Protection: All genetic and personal data are processed in accordance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
Health Information Governance: The laboratory follows Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for secure digital storage and transmission of health records.
Clinical Safety & Consent: Patient safety protocols and informed consent procedures are guided by Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | VDAC1 Gene Mitochondrial Encephalopathy NGS Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (15–20 Business Days) |
| Sample Type / Matrix | Whole Blood (EDTA tube, 3–5 mL) or Dried Blood Spot (FTA card) |
| Methodology Used | Next-Generation Sequencing (Illumina® platform) with Sanger confirmation |
| ICD-10-CM Code | G31.81 |
| LOINC Code | 93306-2 |
| DHA Facility License & Laboratory Address | DNA Labs UAE | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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