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Test Price

2,800 AED

✅ Home Collection Available

NDUFA12 Gene Analysis (Leigh Syndrome, Complex I Deficiency) in UAE | 2800 AED | DHA Licensed

Executive Summary & Core Metrics

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189 & ISO 9001:2015 Accredited Next‑Generation Sequencing.
  • Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection — available daily from 8 AM to 11 PM.
  • Clinical Guidance: Complimentary post‑test telephonic interpretation by a DHA‑licensed Consultant Medical Geneticist.
  • Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.

Targeted NGS Panel for NDUFA12: This single‑gene analysis detects pathogenic variants associated with Leigh syndrome (mitochondrial complex I deficiency) using next‑generation sequencing. Results guide neurologists and pediatricians in early intervention, dietary management, and family planning.

Test Overview & Methodology

The NDUFA12 gene test detects pathogenic variants causing Leigh syndrome (mitochondrial complex I deficiency) using next‑generation sequencing. Results guide neurologists and pediatricians in early intervention, dietary management, and family planning. The test includes copy number variation (CNV) analysis for enhanced diagnostic yield.

Feature Our Test (NDUFA12 NGS) Closest Alternative (Whole Exome)
Diagnostic Precision Targeted, 99.9% sensitivity for NDUFA12 Moderate; may miss deep intronic variants
Methodology Next‑Generation Sequencing (NGS) + CNV analysis Whole Exome Sequencing (WES)
Turnaround Time 3 to 4 Weeks 4 to 6 Weeks

Physician Insight & Safety Protocols

“A confirmed pathogenic variant in NDUFA12 provides a definitive molecular diagnosis for Leigh syndrome, enabling targeted metabolic management and accurate family counselling. Interpretation must always be correlated with clinical findings, MRI spectroscopy, and biochemical assays. Never adjust mitochondrial therapy or dietary interventions without specialist oversight.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403

Advisory: Medication & Supplement Safety

⚠️ Do not discontinue prescribed medication or mitochondrial cocktail supplements without consulting your treating physician.

Abrupt withdrawal of riboflavin, coenzyme Q10, or other supportive therapies may precipitate metabolic decompensation. Any changes must be guided by a neurologist and clinical geneticist.

Exclusion Criteria & Emergency Red Flags

  • Active acute illness with fever >38.5°C may delay blood draw.
  • Documented hypersensitivity to venipuncture materials or anticoagulants.
  • Parents or guardians must consent for minors; non‑consent invalidates collection.
  • 🚨 Seek immediate ER care if the child develops new‑onset seizures, sudden loss of consciousness, severe hypotonia, or lactic acidosis symptoms (vomiting, deep rapid breathing).

Patient FAQ & Clinical Guidance

1. What is the diagnostic accuracy of the NDUFA12 gene test for Leigh syndrome?

The panel achieves >99.9% analytical sensitivity for single nucleotide variants and copy number changes in the NDUFA12 gene, exceeding standard diagnostic thresholds. Clinical correlation with MRI, lactate levels, and neurological examination is essential because a negative result does not exclude other mitochondrial disorders.

2. How is the sample collected and what is the procedure?

Our DHA‑licensed phlebotomist performs a standard venipuncture at your location, collecting 3–5 mL of whole blood in an EDTA tube, transported under cold‑chain. For infants with difficult venous access, a single drop of blood on an FTA card is accepted. Pre‑test genetic counselling is mandatory to draw a family pedigree.

3. Will my insurance cover this genetic test and what UAE laws protect my data?

Many UAE insurers reimburse the NDUFA12 test when ordered by a neurologist or pediatrician; we provide direct billing verification and prior‑authorization support via WhatsApp. Your genomic data is protected under 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, with strict encryption and no third‑party sharing without explicit consent.

4. How long does it take to receive results and how are they delivered?

Turnaround time is 3 to 4 weeks from sample receipt. Results are delivered via secure electronic report with a detailed interpretation from our Consultant Medical Geneticist. A complimentary telephonic consultation is scheduled to explain findings and discuss next steps.

UAE Regulatory & Data Privacy Adherence

  • Data Protection: Fully compliant with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL). All genetic data encrypted at rest and in transit.
  • Health Information Governance: Adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
  • Medical Liability: Patient safety and informed consent protocols follow Federal Decree‑Law No. 4 of 2016 on Medical Liability.
  • Accreditation: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) and ISO 15189 accredited laboratory processes.
  • DHA Oversight: Licensed and regulated by the Dubai Health Authority under Facility License Number 1143.

Clinical & Logistical Metadata

Test Name NDUFA12 Gene Analysis (Leigh Syndrome, Complex I Deficiency)
Price (AED) 2,800 AED
Turnaround Time 3 to 4 Weeks
Sample Type / Matrix Whole Blood (EDTA) or FTA Card for Infants
Methodology Used Next‑Generation Sequencing (NGS) + CNV Analysis
ICD-10-CM Code G31.81
LOINC Code 81247-9
DHA Facility License & Laboratory Address License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE

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