Test Price
2,800 AEDโ Home Collection Available
NDUFAF4 Gene Mitochondrial Complex I Deficiency Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Core Metrics & Value Propositions
- Diagnostic Accuracy: 99.9% sensitivity via ISO 9001:2015 accredited NGS processing.
- Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM โ 11 PM).
- Clinical Guidance: Post-test telephonic genetic counseling included in the price.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Utility
- Definitive molecular diagnosis of Mitochondrial Complex I Deficiency.
- Identification of pathogenic NDUFAF4 variants for metabolic management.
- Informed family planning and recurrence risk assessment.
- Prognostication and anticipation of disease progression.
Test Overview & Methodology
This targeted Next-Generation Sequencing (NGS) assay provides complete coverage of the NDUFAF4 gene, detecting pathogenic variants that cause mitochondrial complex I deficiency. This severe neurometabolic disorder often presents in childhood with encephalopathy, lactic acidosis, and developmental regression. Precise molecular diagnosis is critical for guiding metabolic therapy, anticipating complications, and enabling accurate genetic counseling for at-risk family members.
| Feature | Our Test (NDUFAF4 NGS) | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Diagnostic Precision | 99.9% detection of coding, splice-site variants and copy-number changes | ~95% for the targeted gene; deep intronic mutations may be missed |
| Methodology | Next-Generation Sequencing (NGS) with full-gene coverage and CNV analysis | Exome capture + NGS; follow-up Sanger validation required |
| Turnaround Time | 3 to 4 weeks | 4 to 6 weeks |
Physician Insight & Safety Protocols
โAs a Consultant Medical Genetics specialist, I emphasize that a positive NDUFAF4 result provides a definitive molecular diagnosis for mitochondrial complex I deficiency. However, all genetic findings must be correlated with clinical presentation, biochemical profiles, and neuroimaging. A negative result does not exclude other mitochondrial disorders, necessitating a comprehensive metabolic workup. Post-test genetic counseling is essential for understanding inheritance patterns and making informed reproductive decisions.โ
โ Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Clinical Advisory & Genetic Counseling
This test is designed for diagnostic and predictive purposes only. All results, whether positive, negative, or ambiguous (VUS), should be interpreted in the context of the full clinical picture. Do not alter any prescribed metabolic therapies or supplements based solely on genetic results without consulting the referring physician or a clinical geneticist. Genetic counseling is strongly recommended before and after testing to discuss implications for the patient and biological relatives.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Inability of the patient or legal guardian to provide informed written consent. Clotted, hemolyzed, or improperly labeled samples will be rejected. Home phlebotomy is not available for patients with active seizures or acute metabolic crisis.
- Seek emergency care immediately if: The individual experiences acute onset of lethargy, respiratory distress, unexplained vomiting, seizures, or loss of consciousness. These symptoms may indicate acute metabolic decompensation requiring immediate hospital-based intervention.
- Pediatric Collection: Home collection for minors follows strict protocols under Federal Decree-Law No. 4 of 2016 on Medical Liability, requires documented guardian consent, and is limited to clinically stable children over 2 years of age.
Patient FAQ & Clinical Guidance
1. What does the NDUFAF4 DNA test detect, and how does it help my child?
This test identifies disease-causing mutations in the NDUFAF4 gene, enabling definitive diagnosis of mitochondrial complex I deficiency in as little as 3 weeks. Early molecular confirmation allows clinicians to initiate targeted metabolic support, predict disease course, and offer accurate genetic counselling for future pregnancies.
2. Is home blood collection safe and legally approved for this genetic test in the UAE?
Yes, our DHA-licensed mobile phlebotomists provide hospital-grade, cold-chain home collection fully compliant with UAE PDPL and Federal Decree-Law No. 4 of 2016 on Medical Liability. The sample is handled in an ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) facility with end-to-end traceability, ensuring sample integrity from collection to analysis.
3. Can I use insurance to cover the 2800 AED cost, and how long do results take?
Our team verifies direct billing eligibility with most UAE insurers within 1 hour via WhatsApp. Results are available in 3โ4 weeks with a full clinical interpretation report. Pre-authorization assistance is provided to eliminate unexpected charges and ensure a smooth claims process.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection Framework
DNA Labs UAE strictly adheres to the highest standards of medical data privacy and security mandated by the UAE government.
- Data Privacy: Fully compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). All genetic data is encrypted, anonymized, and processed within secure UAE-based servers.
- Health Data Governance: Adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring absolute confidentiality of electronic health records.
- Medical Liability & Patient Safety: Operates under the legal framework of Federal Decree-Law No. 4 of 2016 on Medical Liability, guaranteeing informed consent, patient rights, and clinical accountability.
- Laboratory Accreditation: ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139), reflecting our commitment to quality management and continuous improvement.
Clinical & Logistical Metadata
| Test Name | NDUFAF4 Gene Sequencing (Mitochondrial Complex I Deficiency) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral Blood (3-5 mL EDTA) or Saliva (Oragene OG-500 kit) |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full gene coverage including intronic boundaries and CNV analysis |
| ICD-10-CM Code | E88.49 (Other disorders of mitochondrial metabolism) |
| LOINC Code | 21636-6 (DNA analysis for Mitochondrial gene mutations) |
| DHA Facility License & Address | DNA Labs UAE | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
ุฏุนู ุซูุงุฆู ุงููุบุฉ ู ุชุงุญ
ุงูุชุญูู ู ู ุงูุชุบุทูุฉ ุงูุชุฃู ูููุฉ
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
ุชููู ุนู ุงูุชุฎู ูู. ุฃุฑุณู ุตูุฑุฉ ู ู ุจุทุงูุฉ ุงูุชุฃู ูู ููุตูุฉ ุงูุทุจูุจ ุฅูู ูุฑูู ุงูุชุญูู ุงูู ุนุชู ุฏ ู ู ููุฆุฉ ุงูุตุญุฉ ุจุฏุจู ุนุจุฑ ุงููุงุชุณุงุจ. ุงุญุตู ุนูู ุชุญุฏูุซ ุงูุญุงูุฉ ูู ุฏูุงุฆู.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians