Test Price
2,800 AED✅ Home Collection Available
ATP5F1E Gene – Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 3 – Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
The ATP5F1E gene analysis using next-generation sequencing (NGS) is an advanced diagnostic test for detecting pathogenic variants causing Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 3 — a rare autosomal recessive disorder that impairs cellular energy production. This test is performed in our ISO 9001:2015 accredited laboratory under Dubai Health Authority supervision, achieving diagnostic sensitivity of 99.9% with integrated pre- and post-test genetic counseling to ensure complete understanding of results and their clinical implications for the patient and extended family members.
Test Overview & Methodology
The ATP5F1E gene encodes the epsilon subunit of mitochondrial ATP synthase (Complex V), and pathogenic variants cause Mitochondrial Complex V Deficiency, Nuclear Type 3 — a severe autosomal recessive disorder characterized by neonatal-onset hypotonia, lactic acidosis, hypertrophic cardiomyopathy, and progressive neurological deterioration. Our NGS-based full gene sequencing identifies single nucleotide variants, small insertions/deletions, and copy number variations across all coding exons and splice-site junctions of ATP5F1E, enabling definitive molecular diagnosis and informed family planning.
| Parameter | Our Test – ATP5F1E NGS Full Gene Sequencing | Closest Alternative – Broad Mitochondrial Panel |
|---|---|---|
| Methodology | NGS (Next Generation Sequencing) with Full Exon Coverage & Splice-Site Analysis | Targeted Genotyping or Limited Sanger Sequencing of Select Hotspots |
| Analytical Sensitivity | ≥99.9% for SNVs and Indels | ~95% (varies; may miss deep intronic variants) |
| Turnaround Time | 3 to 4 Weeks | 6 to 8 Weeks |
| Cost | 2800 AED | 3500 – 5000 AED |
| Pre-Test Genetic Counseling | Included – Pedigree Chart & Risk Assessment | Often Not Included |
Accepted Sample Types: Whole Blood (EDTA Tube), Extracted DNA (≥1 µg), or Dried Blood Spot on FTA Card. Pre-Test Requirement: A mandatory Genetic Counselling session to document a pedigree chart of family members affected with ATP5F1E-related Mitochondrial Complex V Deficiency, Nuclear Type 3 is required prior to sample processing.
Physician Insight & Safety Protocols
Families navigating the diagnostic odyssey of suspected mitochondrial disease face tremendous uncertainty. This comprehensive ATP5F1E gene sequencing offers a definitive molecular answer, enabling precise genetic counseling, recurrence risk assessment, and targeted management strategies within a multidisciplinary care framework.
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
⚠ Medication Advisory
Maintain all prescribed therapies unless explicitly directed otherwise by your treating physician. Patients receiving anticonvulsants, cardiac medications, or mitochondrial cofactor supplementation (e.g., Coenzyme Q10, Riboflavin, L-Carnitine) should continue their current regimen without interruption during the testing period.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria (Do Not Proceed with Home Collection):
- Inability to provide informed consent (or legal guardian consent per applicable UAE pediatric regulations)
- Recent blood transfusion within 14 days (may interfere with germline DNA analysis)
- Active severe infection with hemodynamic instability
- Known bone marrow transplant recipient (donor DNA may confound results)
Emergency Red Flags — Seek Immediate Medical Attention:
- Acute metabolic decompensation with severe lethargy or loss of consciousness
- Status epilepticus or prolonged seizures unresponsive to rescue medication
- Acute respiratory failure or severe tachypnea with lactic acidosis
- Sudden cardiac decompensation or new-onset arrhythmia
Patient FAQ & Clinical Guidance
1. What is the ATP5F1E gene test and why is it ordered?
The ATP5F1E Genetic Test is a comprehensive full-gene sequencing analysis that detects pathogenic variants in the ATP5F1E gene responsible for encoding the epsilon subunit of mitochondrial ATP synthase, a critical enzyme complex required for cellular energy production. This test is primarily ordered by neurologists and clinical geneticists when a patient presents with neonatal or early-childhood onset hypotonia, lactic acidosis, hypertrophic cardiomyopathy, and developmental regression suggestive of Mitochondrial Complex V Deficiency, Nuclear Type 3. Confirmation of biallelic pathogenic variants enables definitive molecular diagnosis, guides prognosis, informs family recurrence risk assessment, and opens eligibility for clinical trials targeting mitochondrial disorders.
2. How is the sample collected and what does the process involve?
A certified phlebotomist collects a standard venous blood sample (EDTA tube) during a scheduled home visit between 8 AM and 11 PM, with all samples transported under ISO-certified cold-chain conditions to our DHA-licensed laboratory facility for immediate DNA extraction and NGS library preparation. Alternatively, patients may provide a dried blood spot on an FTA card or submit previously extracted DNA, and every collection is preceded by a mandatory genetic counseling session to document the family pedigree and ensure fully informed consent. The entire collection process takes approximately 15–20 minutes and is performed using hospital-grade aseptic technique.
3. How long do results take and how will I receive them?
Results are delivered within 3 to 4 weeks from the date of sample accessioning, and every report includes a detailed variant interpretation aligned with ACMG/AMP guidelines, clinical correlation recommendations, and a scheduled telephonic post-test consultation with a DHA-licensed Consultant Medical Genetics specialist to explain findings in plain language. Reports are transmitted exclusively through an encrypted, PDPL-compliant patient portal, and copies can be shared with your referring neurologist or genetic counselor upon written authorization. Urgent preliminary findings requiring immediate clinical action are communicated within 72 hours of variant confirmation.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This diagnostic 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. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data is processed within UAE-sovereign infrastructure with end-to-end encryption. DHA Facility License: 1143.
Clinical & Logistical Metadata
| Test Name | ATP5F1E Gene – Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 3 – NGS Full Gene Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks (21–28 Business Days) |
| Sample Type / Matrix | Whole Blood (EDTA Tube), Extracted DNA (≥1 µg), or Dried Blood Spot on FTA Card |
| Methodology Used | NGS (Next Generation Sequencing) with Full Exon Coverage & Splice-Site Analysis |
| ICD-10-CM Code | E88.49 – Other Mitochondrial Metabolism Disorders; G31.82 – Leigh Syndrome; Z13.71 – Encounter for Genetic Screening for Nervous System Disorders |
| LOINC Code | 93495-7 – ATP5F1E gene full mutation analysis by NGS |
| DHA Facility License & Laboratory Address | DHA Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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