Test Price
2,800 AED✅ Home Collection Available
NDUFV1 Gene Mitochondrial Complex I Deficiency Genetic Test (NGS) in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Test Overview & Methodology
The NDUFV1 Gene Mitochondrial Complex I Deficiency NGS Test sequences the entire coding region of the NDUFV1 gene to detect pathogenic variants responsible for severe neurometabolic disorders, including Leigh syndrome and mitochondrial encephalopathy. This targeted next‑generation sequencing approach provides high diagnostic sensitivity and specificity for variants within this nuclear gene.
| Feature | Our NGS Test | Whole Exome Sequencing (WES) |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity for NDUFV1 | Variable coverage; may miss deep intronic variants |
| Methodology | Targeted NGS (Illumina NovaSeq) with Sanger confirmation | Broad NGS capture, lower read depth for single-gene analysis |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Interpretation | Gene‑specific report with clinical correlation | Incidental findings may require follow‑up |
Physician Insight & Safety Protocols
“In my clinical genetics practice, I emphasize that NDUFV1 genetic testing must always be interpreted alongside a thorough neurological examination, detailed family history, and counseling regarding autosomal recessive inheritance. Genetic results alone do not confirm a diagnosis; they require expert correlation to guide management. We strongly advise pre‑ and post‑test genetic counseling for all families.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue prescribed medication without consulting your doctor. Abrupt cessation of anti‑epileptic drugs or metabolic supplements may trigger neurological deterioration. Always inform your genetics team about current medications before sample collection.
Exclusion Criteria & ER Red Flags
- Exclusion: Patients who have received blood transfusion or bone marrow transplant within 120 days; individuals on anticoagulants that cannot be temporarily halted.
- Red Flags: Sudden neurological deterioration, new‑onset seizures, acute metabolic acidosis, or unexplained loss of consciousness — seek emergency care immediately before scheduling the test.
Patient FAQ & Clinical Guidance
1. What is the NDUFV1 gene and what does this test detect?
Snippet Answer: This NGS test identifies NDUFV1 gene mutations causing mitochondrial complex I deficiency and severe neurological disorders. It analyzes the entire coding sequence to pinpoint pathogenic variants linked to Leigh syndrome, leukoencephalopathy, and other mitochondrial encephalopathies. Results aid in accurate diagnosis, prognosis, and family planning decisions.
2. Why is genetic counseling recommended before this test?
Snippet Answer: Pre‑test genetic counseling ensures informed consent, accurate interpretation of results, and psychological support for families affected by severe disorders. It clarifies the inheritance pattern (autosomal recessive) and the implications for siblings and future pregnancies. Our certified genetic counselors provide a confidential session before sample collection.
3. How should I prepare for the sample collection?
Snippet Answer: No special preparation is needed. Our VIP mobile phlebotomy service draws a standard blood sample from the comfort of your home. You can eat and drink normally; inform the phlebotomist about any anticoagulant medications you are taking. The sample is transported in a temperature‑controlled cold chain to our ISO‑certified lab for immediate processing.
UAE Regulatory & Data Privacy Adherence
Cert: INT/EGQ/2509DA/3139
License: 1143
+971 54 548 8731
This service operates in full 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. All genetic data is processed with strict confidentiality, and patient consent is obtained per Federal Decree-Law No. 4 of 2016 on Medical Liability. Your information is never shared without explicit authorization.
Clinical & Logistical Metadata
| Test Name | NDUFV1 Gene Mitochondrial Complex I Deficiency Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood |
| Methodology Used | Targeted Next‑Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | E88.49, G31.82 |
| LOINC Code | 21665-9 |
| DHA Facility License & Address | License: 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
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