Test Price
2,800 AED✅ Home Collection Available
NDUFS4 Gene Leigh Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
The NDUFS4 Gene Leigh Syndrome Genetic Test delivers 99.9% diagnostic sensitivity for pathogenic variants in the NDUFS4 gene, the nuclear-encoded cause of Leigh syndrome — a severe neurometabolic disorder. This molecular confirmation enables neurologists, pediatricians, and neonatologists to initiate early intervention and informed family counselling. The test is performed in an ISO 9001:2015 accredited laboratory (Cert: INT/EGQ/2509DA/3139) with VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM across all UAE emirates. Every result includes a telephonic post-test clinical interpretation by a consultant medical geneticist.
Accuracy Guarantee
99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
Premium Logistics
ISO Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy (8 AM – 11 PM).
Clinical Guidance
Telephonic Post-Test Clinical Result Interpretation by a Consultant Medical Geneticist.
Insurance
Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The NDUFS4 Gene Leigh Syndrome Genetic Test employs next-generation sequencing (NGS) to detect pathogenic variants across the entire NDUFS4 gene, including all exons and flanking intronic regions (±10 bp). Leigh syndrome is a progressive neurometabolic disorder caused by mitochondrial dysfunction, and mutations in NDUFS4 disrupt complex I of the electron transport chain. Early molecular diagnosis is critical for guiding therapeutic decisions, enabling metabolic management, and providing accurate recurrence risk counselling for families. The test utilises high-throughput sequencing on an Illumina platform with a minimum read depth of 100x, ensuring robust variant calling and detection of mosaic variants down to 15% allele frequency.
| Feature | Our Premium Test | Closest Alternative |
|---|---|---|
| Methodology | Next Generation Sequencing (NGS) covering all exons ±10 bp | Targeted Sanger sequencing of select exons |
| Turnaround Time | 3 to 4 Weeks (ISO‑certified lab) | 6–8 Weeks |
| Diagnostic Yield | 99.9% Sensitivity; full gene coverage | ~85% sensitivity; hotspots only |
| Pre‑test Counselling | Included genetic counselling session | Not included |
| UAE Regulatory Compliance | DHA/MOHAP, PDPL, Federal Decree-Law No. 4 of 2016 on Medical Liability, ISO 9001:2015 | Partial |
Physician Insight & Safety Protocols
From Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
"When a child presents with unexplained developmental regression, lactic acidosis, and characteristic basal ganglia changes on MRI, the clinical suspicion for Leigh syndrome is high. This comprehensive NGS test provides the definitive molecular answer by interrogating the entire NDUFS4 gene. However, results must always be interpreted within the full clinical context — a single variant may require functional studies or familial segregation analysis. I recommend a pre-test genetic counselling session to discuss recurrence risks and the potential for incidental findings."
Critical Pre-Test Advisory
Do not discontinue prescribed medication without consulting your physician. Abrupt changes can provoke metabolic decompensation in mitochondrial disorders. Inform your doctor of all supplements, vitamins, and cofactors you are currently taking prior to the test.
Safety Exclusion Criteria & ER Red Flags
- Exclusion: Home collection not suitable if INR >3.0, active anticoagulant therapy with bleeding risk, or severe needle phobia (in‑clinic venous draw recommended).
- Exclusion: Minors without presence of a legal guardian. Genetic testing for asymptomatic minors requires formal genetic counselling and written informed consent as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- ER Red Flags: New‑onset seizures, loss of consciousness, sudden respiratory difficulty, or acute motor regression – seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What is the NDUFS4 gene test and how does it help in Leigh syndrome?
NDUFS4 gene NGS test accurately detects pathogenic variants that cause Leigh syndrome, enabling a precise molecular diagnosis and optimal clinical management. The test screens the entire NDUFS4 gene for disease-causing mutations using high-throughput sequencing. Clinicians can then confirm the molecular basis of Leigh syndrome, differentiate it from other mitochondrial disorders, and provide accurate recurrence risk counselling for family planning.
2. How long do results take and what sample is needed?
Results become available in 3 to 4 weeks using a simple blood draw, extracted DNA, or FTA card. Once the sample reaches our ISO‑accredited genomics laboratory, NGS libraries are prepared and sequenced on an Illumina platform. The extended timeframe ensures rigorous quality control, orthogonal confirmation of all reported variants, and final clinical interpretation by a certified consultant medical geneticist.
3. Is the test approved in the UAE and covered by insurance?
The test is fully DHA-licensed and many insurers provide coverage for genetic testing when medically indicated. DNA Labs UAE operates under DHA Facility License No. 1143 and complies with UAE data protection laws. Contact our WhatsApp line +971 54 548 8731 to verify your insurance eligibility instantly.
4. Do I need a doctor referral to order this test?
Yes, a physician referral is recommended to ensure clinical appropriateness. Our team can coordinate with your neurologist, paediatrician, or primary care provider to obtain the necessary referral. The test is validated for diagnostic use and results are delivered with a formal clinical report suitable for specialist review.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under the oversight of the Dubai Health Authority (DHA) and adheres to the highest standards of patient data protection and clinical safety. All genetic data generated by this test is handled in full compliance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) — ensuring your genetic information is collected, processed, and stored with explicit consent and robust security measures.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields — governing the secure electronic transmission and storage of health records and diagnostic data.
- Federal Decree-Law No. 4 of 2016 on Medical Liability — safeguarding patient consent, clinical safety, and professional accountability throughout the testing pathway.
Our laboratory holds DHA Facility License No. 1143 and is located at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | NDUFS4 Gene Leigh Syndrome Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Extracted DNA, or FTA Card — VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM – 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina Platform, Full Gene Coverage (Exons ±10 bp), 100x Minimum Read Depth |
| ICD-10-CM Code | G31.82 (Leigh Syndrome) |
| LOINC Code | 82566-0 (Leigh syndrome gene mutation analysis) |
| DHA Facility License & Laboratory Address | License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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