Test Price
2,800 AED✅ Home Collection Available
NDUFAF6 Gene Leigh Syndrome Genetic Test in Dubai | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited next-generation sequencing (NGS) with Sanger confirmation.
- Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM across Dubai and Sharjah.
- Clinical Guidance: Telephonic post-test interpretation by a DHA-licensed Consultant Medical Genetics specialist.
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
- Price: 2,800 AED inclusive of genetic counseling and result reporting.
- Turnaround Time: 3–4 weeks from sample receipt to final validated report.
Test Overview & Methodology
The NDUFAF6 gene Leigh syndrome genetic test analyzes the entire coding region and splice sites of the NDUFAF6 gene using next-generation sequencing (Illumina® platform) with orthogonal Sanger validation for all pathogenic and likely pathogenic variants. This test provides a definitive molecular diagnosis for individuals with clinical suspicion of Leigh syndrome, a severe neurometabolic disorder caused by mitochondrial complex I deficiency.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Precision | Full gene NGS with Sanger validation for all pathogenic/likely pathogenic variants; detection of large deletions/duplications via bioinformatics. | Targeted mutation panel or single-gene Sanger only (limited coverage, no rearrangement detection). |
| Methodology | Next-Generation Sequencing (Illumina®) + integrated Sanger confirmation | Conventional Sanger sequencing (slower, no large rearrangement detection) |
| Turnaround Time | 3 to 4 Weeks (including validation and clinical review) | Often 6–8 Weeks without integrated bioinformatics pipeline |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I understand the emotional weight of investigating a possible genetic diagnosis in a child. The NDUFAF6 test delivers a precise molecular answer, but every result must be integrated with the full clinical picture, metabolic workup, and neuroimaging. No result is released without expert interpretation and genetic counseling.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠ Important Medication Advisory
Never discontinue, modify, or initiate any medication solely based on this genetic test result. Always consult your treating physician for therapeutic adjustments.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: This test is not indicated for asymptomatic minors without comprehensive genetic counseling and signed informed consent from the legal guardian, as mandated by Federal Decree-Law No. 4 of 2016 on Medical Liability. Also exclude adults without clinical suspicion of Leigh syndrome spectrum disorder.
- Emergency Warning: If the individual experiences sudden neurological deterioration, seizures, respiratory distress, or severe metabolic acidosis, seek emergency medical attention immediately. This test is not a substitute for acute clinical intervention.
Patient FAQ & Clinical Guidance
1. Why is the NDUFAF6 gene important for Leigh syndrome?
The NDUFAF6 gene encodes a mitochondrial complex I assembly factor. Pathogenic variants disrupt cellular energy production, leading to the characteristic neurological and metabolic features of Leigh syndrome, a progressive neurometabolic disorder.
2. How is the sample collected for this genetic test?
A standard peripheral blood sample (2–5 mL in EDTA) is required. Our VIP mobile phlebotomy service can collect samples at your home daily from 8 AM to 11 PM with temperature-controlled cold-chain transport to our DHA-licensed laboratory.
3. What is the accuracy and clinical validity of this test?
The test achieves 99.9% diagnostic sensitivity for single nucleotide variants and small indels within the NDUFAF6 gene under our ISO 9001:2015 accredited NGS protocol with orthogonal Sanger confirmation. Clinical validity is supported by peer-reviewed evidence linking NDUFAF6 variants to Leigh syndrome.
4. What is the turnaround time and how will I receive results?
Results are typically available within 3–4 weeks. You will receive a secure electronic report along with a telephonic consultation to explain findings and recommend next steps, including referrals to a pediatric neurologist or metabolic specialist.
UAE Regulatory & Data Privacy Adherence
- 🔬 Performed in strict adherence to 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.
- Patient consent and clinical safety follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
- ISO 9001:2015 Certified Laboratory – Cert No: INT/EGQ/2509DA/3139. DHA Facility License: 1143.
- Medical Director: Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403. All results reviewed by a board-certified specialist.
Clinical & Logistical Metadata
| Test Name | NDUFAF6 Gene Leigh Syndrome Genetic Test (Full Gene Sequencing) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily 8 AM–11 PM) |
| Methodology Used | Next-Generation Sequencing (Illumina®) + Sanger Confirmation |
| ICD-10-CM Code | G31.81 (Leigh syndrome), E88.89 (Other specified metabolic disorders), R94.0 (Abnormal results of nervous system function studies) |
| LOINC Code | 21636-5 (Mitochondrial gene analysis 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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