Test Price
2,800 AEDโ Home Collection Available
NDUFS4 Gene Sequencing (Mitochondrial Complex I Deficiency) in UAE | 2800 AED
Executive Summary & Core Metrics
Executive Clinical Summary
The NDUFS4 Gene NGS Test provides precise molecular diagnosis of mitochondrial complex I deficiency, a severe neurodegenerative disorder. With 99.9% diagnostic sensitivity via ISO-accredited processing (ISO 9001:2015, Cert. INT/EGQ/2509DA/3139), this DHA-licensed test offers definitive genetic clarity for affected families in UAE. Our premium service includes ISO-certified cold-chain home collection, VIP mobile phlebotomy (8 AM โ 11 PM), comprehensive pre- and post-test genetic counselling, and telephonic clinical guidance.
Test Overview & Methodology
The NDUFS4 Gene NGS Test analyzes the entire coding region of the NDUFS4 gene using Next Generation Sequencing to identify pathogenic variants causative of mitochondrial complex I deficiency, a severe neurometabolic disorder. This NGS technology offers single-nucleotide resolution and is the definitive molecular standard, replacing less sensitive legacy panel assays, for confirming a clinical diagnosis, guiding familial screening in accordance with UAE preventive health directives, and enabling proactive neurological management.
| Feature | Our Test: NDUFS4 NGS Gene Sequencing | Closest Alternative: Targeted Genotyping Panel |
|---|---|---|
| Precision & Yield | Full gene sequencing; identifies novel & rare variants. | Pre-defined hotspots only; misses rare mutations. |
| Clinical Methodology | NGS (Next-Generation Sequencing) with advanced bioinformatics. | PCR-based Sanger Sequencing of limited loci. |
| Turnaround & Scope | Comprehensive in 3โ4 Weeks. | Fragmented results requiring iterative testing. |
Physician Insight & Safety Protocols
A Message from Lina Osama Zaki Quteineh, DHA License: 9294403:
"A diagnosis of mitochondrial complex I deficiency can be profoundly disorienting for a family; this test is not merely a lab value but the foundational blueprint for personalizing your child's neurologist-led care plan. The NDUFS4 variant information is critical, yet the clinical picture must remain our compassโplease know that a positive result must be integrated with neurological assessment, while a negative one does not exclude other forms of mitochondrial disease. Your active partnership is your family's most potent therapeutic asset."
๐ Advisory Note
Do not discontinue, modify, or initiate any prescribed medication, vitamins, or cofactors, including valproic acid, barbiturates, or specific antibiotics, without explicit consultation with your treating neurologist. This genetic information is diagnostic and requires expert clinical correlation to avoid severe metabolic decompensation.
๐จ Exclusion & Emergency Protocol
- Exclusion Criteria: Inability to provide a valid clinical history or participate in the mandated pre-test genetic counselling session as per UAE law for minors. Samples must be collected strictly by our DHA-licensed phlebotomists.
- When to seek Emergency Care (ER Red Flags): If the patient experiences sudden onset of metabolic crisis symptoms such as acute lethargy, intractable vomiting, seizures, or loss of motor skills, report to the nearest hospital immediately.
Patient FAQ & Clinical Guidance
1. What does a positive NDUFS4 gene test mean for my child's neurological development?
A positive NDUFS4 gene test confirms a genetic diagnosis of mitochondrial complex I deficiency, pinpointing the precise cause of potential neurological regression, Leigh syndrome-like brain lesions, and movement disorders observed on MRI, which enables precise prognostic counselling and targeted therapeutic support. Clinical correlation by a pediatric neurologist is mandatory to differentiate it from other mitochondrialopathies and to initiate a personalized disease management strategy.
2. Is it possible to perform the NDUFS4 gene test using a FTA card sample instead of venous blood for an infant?
Yes, our accredited laboratory accepts a finger-prick blood sample on an FTA card as a less invasive alternative to whole blood, providing excellent DNA stability and full compatibility with our sensitive NGS sequencing protocols without compromising diagnostic accuracy. A sterile home collection kit with complete instructions and immediate courier cold chain pickup is provided to ensure sample integrity.
3. Why is a 3-to-4-week turnaround needed for this specific genetic test, and how are my data protected?
The 3-to-4-week TAT comprises exhaustive DNA library preparation, high-depth NGS sequencing achieving a 100x minimum mean coverage, and rigorous multi-stage bioinformatic annotation against ClinVar and mitochondrial genome databases for absolute variant accuracy, followed by clinical PhD scientist review. Your genomic data is secured and anonymized in compliance with the UAE PDPL and ISO 9001:2015 data integrity standards, with strict access controls beyond the clinical reporting team.
UAE Regulatory & Data Privacy Adherence
Your data is protected under UAE law. This test complies with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ Ensuring the confidentiality, integrity, and lawful processing of your genomic data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ Governing secure electronic health records and digital reporting.
DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
Clinical & Logistical Metadata
| Test Name | NDUFS4 Gene Sequencing (Mitochondrial Complex I Deficiency) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (3โ5 mL in EDTA tube) or FTA card (dried blood spot) |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full gene coding region analysis |
| ICD-10-CM Code | E88.40 |
| LOINC Code | 94060-0 |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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