Test Price
2,800 AED✅ Home Collection Available
NDUFA1 Gene Mitochondrial Complex I Deficiency NGS Test in UAE
Executive Summary & Core Metrics
This next-generation sequencing (NGS) assay targets the entire coding region of the NDUFA1 gene, providing definitive molecular diagnosis for mitochondrial complex I deficiency. The test delivers >99.9% analytical sensitivity for single-nucleotide variants and small indels, with concurrent detection of copy number variants. Turnaround time is 3–4 weeks, and the test is available for 2,800 AED. Sample types include peripheral whole blood (via VIP mobile phlebotomy) or self-collected buccal swab / FTA card. All results are interpreted per ACMG guidelines and reviewed by a Consultant Medical Geneticist.
Key metrics: 2,800 AED | 3–4 weeks turnaround | >99.9% sensitivity | ISO 9001:2015 certified lab | DHA licensed.
Test Overview & Methodology
The NDUFA1 gene encodes a core subunit of mitochondrial respiratory chain Complex I. Pathogenic variants cause a spectrum of neurological disorders, including Leigh syndrome and MELAS-like phenotypes. Our NGS assay sequences all exons and flanking intronic regions with deep coverage, enabling detection of missense, nonsense, splice-site, and frameshift mutations as well as large deletions/duplications that escape Sanger sequencing. Variants are classified following the ACMG/AMP 2015 guidelines and confirmed via orthogonal methods when necessary.
| Feature | Our NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Full-gene NGS with copy number variant detection | Single-exon sequencing, no CNV detection |
| Analytical Sensitivity | >99.9% for substitutions & indels | ~95% per amplified fragment |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Inheritance & Risk | Comprehensive pedigree integration | Limited to index case |
| UAE Regulatory Status | DHA/MOHAP licensed, ISO 9001:2015 | Often foreign labs, no local oversight |
Physician Insight & Safety Protocols
Note from Dr. Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA 9294403): “A positive NDUFA1 variant must always be interpreted in the context of the patient’s clinical picture and biochemical findings – not all sequence changes are disease-causing. Early diagnosis can open doors to supportive treatments and genetic counselling for at-risk family members, but the result is a piece of a larger puzzle, not the final word.”
Clinical Advisory – Medication & Supplement Safety
Do not discontinue prescribed medication without consulting your treating physician. No special drug restrictions for the test itself, but inform the phlebotomist of any anticoagulants (blood thinners) prior to collection.
Exclusion Criteria & Red Flags – Urgent Safety Notices
- Absolute exclusion: Active febrile illness or untreated infection requiring emergency care – postpone home collection and seek hospital evaluation.
- Red flag symptoms warranting immediate ER visit: Acute encephalopathy, new-onset seizures, sudden loss of motor skills, or unexplained metabolic acidosis.
- Minors: In accordance with UAE Federal Decree-Law No. 4 of 2016 on Medical Liability, genetic testing on children requires documented consent from a legal guardian and a paediatric neurologist’s referral – home collection only with guardian present.
- Data Privacy: Your genetic data is protected under UAE PDPL and processed only on encrypted servers within the DHA-regulated facility.
Patient FAQ & Clinical Guidance
1. What does a positive NDUFA1 test mean for my child’s neurological symptoms?
Direct answer: A positive result confirms a pathogenic variant in the NDUFA1 gene responsible for mitochondrial complex I deficiency, which directly explains the underlying cause of progressive neurological deterioration like hypotonia, developmental regression, or seizures. However, the specific prognosis depends on the exact mutation and biochemical severity, so results must be reviewed by a paediatric neurologist and metabolic specialist for individualised treatment planning.
2. How reliable is this NGS test compared to older methods for mitochondrial disorders?
Direct answer: With >99.9% analytic sensitivity for single‑nucleotide variants and the ability to detect large deletions, this NGS assay is the most comprehensive method for mitochondrial gene testing, surpassing traditional Sanger sequencing which misses structural rearrangements and requires multiple separate reactions. The test follows ACMG variant interpretation guidelines and is performed in an ISO 9001:2015 certified facility, ensuring diagnostic-grade reliability accepted by all DHA and MOHAP hospitals.
3. Can I use my FTA card sample collected at home without a phlebotomist?
Direct answer: Yes, a self‑collected buccal swab or one‑drop blood on a DNA‑stabilizing FTA card is a fully accepted sample type for this test, provided it is done following our instructional video and returned via prepaid courier; the extraction protocol yields high‑quality DNA with no loss of analytic sensitivity. However, for infants or patients with complex neurological conditions, we strongly recommend VIP home phlebotomy to ensure adequate sample volume and chain‑of‑custody compliance.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License No. 1143 and complies with the following UAE laws and regulations:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic data is stored on encrypted servers within the UAE, accessible only to authorized personnel, and processed solely for diagnostic purposes.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Electronic health records and test results are transmitted securely, ensuring patient confidentiality and data integrity.
- In addition, clinical safety and consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Our laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and meets all DHA and MOHAP quality standards.
Clinical & Logistical Metadata
| Test Name | NDUFA1 Gene Mitochondrial Complex I Deficiency NGS Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (VIP mobile phlebotomy) or Buccal swab / FTA card (self-collection) |
| Methodology Used | Full-gene next-generation sequencing with CNV detection; ACMG/AMP variant interpretation |
| ICD-10-CM Code | E88.49 (Other disorders of mitochondrial metabolism) |
| LOINC Code | 99530-0 (Mitochondrial complex I deficiency gene panel) |
| DHA Facility License & Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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