Test Price
2,800 AED✅ Home Collection Available
MT‑ND4 Gene Mitochondrial Complex I Deficiency Genetic Test in UAE
Executive Summary & Core Metrics
Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) accredited NGS pipeline – every base is verified against GRCh38/hg38, ClinVar, and gnomAD.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across all Emirates.
Clinical Guidance: Telephonic Post-Test Interpretation by a DHA-licensed Consultant Medical Geneticist and a Genetic Counsellor.
Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The MT‑ND4 gene encodes a core subunit of mitochondrial respiratory chain Complex I; pathogenic variants cause isolated or syndromic neurological disorders such as Leigh syndrome, MELAS, and Leber hereditary optic neuropathy. This NGS test sequences the entire coding region and flanking intron‑exon boundaries, detecting point mutations, small insertions/deletions, and copy number variants with clinical‑grade accuracy.
| Feature | Our MT‑ND4 NGS Test (UAE) | Single‑Gene Sanger Sequencing |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity; full coding region + flanking intronic boundaries, CNV detection | 99% sensitivity for individual exons; no CNV detection; may miss deep intronic variants |
| Method | Next‑Generation Sequencing (NGS) at 500× mean depth, bioinformatics pipeline aligned to GRCh38 | Sanger sequencing; low throughput, manual interpretation |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403) remarks: “This highly sensitive NGS assay can pinpoint MT‑ND4 variants, but a genetic finding must always be correlated with the full neurological phenotype, family history, and metabolic biomarkers. A negative result does not exclude other mitochondrial gene defects, and I strongly advise post‑test genetic counselling to avoid misinterpretation.”
Advisory Notice
Do not discontinue prescribed medication without consulting your doctor.
Exclusion Criteria & Emergency Red Flags
- Acute medical emergency: If you experience seizures, stroke‑like episodes, or severe metabolic acidosis, seek emergency care immediately; this test is not a substitute for acute management.
- Minors (under 18): Parental/guardian consent is mandatory per Federal Decree‑Law No. 4 of 2016 on Medical Liability; a pre‑test genetic counselling session is compulsory for all paediatric patients.
- Specimen suitability: Individuals unable to provide a venous blood sample or a dried blood spot may require alternative collection; contact our support team for guidance.
- Regulatory compliance: All genetic testing in the UAE is performed in strict accordance with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 concerning health ICT use.
Patient FAQ & Clinical Guidance
1. What conditions does the MT‑ND4 gene test help diagnose?
This NGS identifies pathogenic variants in the MT‑ND4 gene that are directly linked to mitochondrial Complex I deficiency, which can manifest as Leigh syndrome, mitochondrial encephalomyopathy with lactic acidosis and stroke‑like episodes (MELAS), or Leber hereditary optic neuropathy (LHON).
2. Can I use a dried blood spot (FTA card) instead of a blood draw?
Yes, we accept one drop of blood on an FTA card as a reliable non‑invasive alternative, which is particularly convenient for home collection in the UAE; the sample remains stable at ambient temperature during transport.
3. How should I prepare for the genetic counselling session before testing?
You will need a detailed family history to draw a pedigree chart; no fasting is required, and we encourage bringing any previous neurological reports or MRI scans to the session for optimal context.
UAE Regulatory & Data Privacy Adherence
All personal data and genetic information are processed in strict 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 and medical liability follow Federal Decree‑Law No. 4 of 2016 on Medical Liability. Your data is stored securely, used solely for diagnostic purposes, and never shared without explicit authorization.
Clinical & Logistical Metadata
| Test Name | MT‑ND4 Gene Mitochondrial Complex I Deficiency Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood or Dried Blood Spot (FTA Card) |
| Methodology Used | Next‑Generation Sequencing (NGS) – 500× mean depth, GRCh38 alignment |
| ICD-10-CM Code | E88.49 |
| LOINC Code | 55233-1 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143; Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE; Corporate Lab Branding: DNA Labs UAE |
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