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 | 2026 DHA Guidelines
تحليل جين ATP5F1E لنقص معقد الميتوكوندريا الخامس (سينثاز ATP) النوع النووي الثالث في الإمارات | ٢٨٠٠ درهم | إرشادات هيئة الصحة بدبي ٢٠٢٦
الملخص التنفيذي: تحليل جين ATP5F1E بتقنية التسلسل الجيني من الجيل التالي (NGS) هو فحص تشخيصي متطور للكشف عن الطفرات المسببة لنقص معقد الميتوكوندريا الخامس (سينثاز ATP) من النوع النووي الثالث، وهو اضطراب وراثي نادر يؤثر على إنتاج الطاقة الخلوية. يُجرى هذا الفحص في مختبراتنا المعتمدة وفق معايير الآيزو 9001:2015 وتحت إشراف هيئة الصحة بدبي، مع ضمان دقة تشخيصية تصل إلى 99.9% وتقديم استشارات وراثية متكاملة قبل وبعد الفحص لضمان الفهم الكامل للنتائج وتأثيراتها السريرية على المريض وأفراد الأسرة.
Regulatory Compliance: This diagnostic service strictly adheres to Federal Decree-Law No. 41 of 2024 (Art. 87), UAE CDS Law 2026 provisions for minors, and the UAE Personal Data Protection Law (PDPL). Facility License: 9834453. All genetic data is processed within UAE-sovereign infrastructure with end-to-end encryption.
Overview of the ATP5F1E Genetic Test
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. يُعد هذا الفحص أداة تشخيصية حاسمة لتأكيد الإصابة وتوجيه خطة العلاج السريري. 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 draw 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 Protocol
As a clinical neurologist with extensive experience in mitochondrial medicine, I understand the profound uncertainty families face when seeking a molecular diagnosis for suspected mitochondrial complex V deficiency — this Genetic Test as one critical data point within a comprehensive, multidisciplinary diagnostic process.
— Dr. PRABHAKAR REDDY, DHA License: 61713011, Consultant Neurologist
⚠ Medication Warning
Do not discontinue prescribed medication without consulting your doctor. Patients on anticonvulsants, cardiac medications, or mitochondrial cofactor supplements (e.g., Coenzyme Q10, Riboflavin, L-Carnitine) must continue their regimen as directed unless otherwise advised by their treating physician.
⛔ Exclusion Criteria & Emergency Red Flags
Exclusion Criteria (Do Not Proceed with Home Collection):
- Inability to provide informed consent (or legal guardian consent per UAE CDS Law 2026 for minors)
- 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 a biallelic pathogenic variant enables definitive molecular diagnosis, guides prognosis, informs family recurrence risk assessment, and opens eligibility for clinical trials targeting mitochondrial disorders.
س: ما هو تحليل جين ATP5F1E ولماذا يُطلب؟
ج: تحليل جين ATP5F1E هو فحص جيني شامل بتقنية التسلسل المتقدم يكشف الطفرات المسببة لنقص معقد الميتوكوندريا الخامس، ويُطلب عند وجود أعراض عصبية وقلبية واستقلابية لدى الرضع أو الأطفال لتأكيد التشخيص الجزيئي وتوجيه العلاج.
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.
س: كيف يتم جمع العينة وما هي خطوات الفحص؟
ج: يتم جمع عينة دم وريدي قياسية بواسطة أخصائي سحب دم معتمد خلال زيارة منزلية مجدولة، مع نقل العينة تحت ظروف تبريد معتمدة إلى مختبرنا المرخص من هيئة الصحة بدبي لاستخراج الحمض النووي وإجراء التحليل الجيني المتقدم.
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 2026 guidelines, clinical correlation recommendations, and a scheduled telephonic post-test consultation with a DHA-licensed 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 (e.g., a confirmed pathogenic variant requiring immediate clinical action) are communicated within 72 hours of variant confirmation.
س: كم تستغرق النتائج وكيف سأستلمها؟
ج: تصدر النتائج خلال 3 إلى 4 أسابيع من استلام العينة، ويتضمن التقرير تفسيراً مفصلاً للطفرات وفق المعايير العالمية مع استشارة هاتفية بعد الفحص لشرح النتائج، وتُرسل التقارير عبر بوابة إلكترونية مشفرة تتوافق مع قوانين حماية البيانات في الإمارات.
ICD-10-CM 2026 Codes Associated with This:
LOINC Code: 93495-7 – ATP5F1E gene full mutation analysis by NGS
ISO 9001:2015 Certified | Cert: INT/EGQ/2509DA/3139 | DHA Facility License: 9834453
WhatsApp Support & Booking: +971 54 548 8731 | Home Collection: 8 AM – 11 PM Daily
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