Test Price
2,800 AED✅ Home Collection Available
MRPL44 Gene – Combined Oxidative Phosphorylation Deficiency Type 16 (COXPD16) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين MRPL44 لنقص الأكسدة الفسفورية المشترك من النوع 16 (COXPD16) في الإمارات | 2800 درهم إماراتي | معتمد من هيئة الصحة بدبي
Executive Summary
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy (8 AM – 11 PM across UAE).
- Clinical Guidance: Complimentary Telephonic Post-Test Clinical Guidance in result interpretation by DHA-licensed genetic counsellors.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
يقدم هذا التحليل الجيني المتطور دقة تشخيصية بنسبة 99.9% عبر مختبر مرخص ومعتمد من ISO، مع خدمة سحب الدم المنزلي المتميزة في جميع أنحاء الإمارات، وتوجيه سريري بعد النتيجة.
Overview
The MRPL44 gene test employs next-generation sequencing (NGS) to detect pathogenic variants causing Combined Oxidative Phosphorylation Deficiency Type 16 (COXPD16), a severe mitochondrial disorder. This genetic test is essential for confirming clinical diagnosis, guiding metabolic management, and enabling informed family planning. تحليل جين MRPL44 يؤكد تشخيص نقص الأكسدة الفسفورية المشترك من النوع 16 ويساعد في التخطيط العائلي والعلاجي.
| Feature | Our MRPL44 Test | Closest Alternative (Generic Mitochondrial Panel) |
|---|---|---|
| Gene Coverage | 100% coding region of MRPL44 with deep intronic boundaries | MRPL44 may or may not be included; limited to panel design |
| Methodology | High-depth NGS on Illumina NovaSeq, all pathogenic variants confirmed by Sanger sequencing | Variable read depth; Sanger confirmation often not performed |
| Turnaround Time | 3–4 Weeks | 4–8 Weeks |
| Clinical Report | ICD-10 & LOINC coded, DHA-compliant PDF with actionable interpretation | May lack standardised coding and local compliance |
Physician Insight & Safety Protocol
"As a physician specialising in metabolic genetics, I understand that pursuing a definitive molecular diagnosis for mitochondrial disease can be emotionally challenging. This MRPL44 genetic test is a precise tool that identifies the underlying cause of COXPD16, allowing us to tailor monitoring for multi-system involvement and offer accurate recurrence risk counselling. Please remember, a positive result is not a diagnosis in isolation—it must be interpreted alongside your full clinical picture by a specialist in mitochondrial medicine."
— Dr. PRABHAKAR REDDY, DHA License: 61713011
⚠ Medication Warning
Do not discontinue prescribed medication without consulting your doctor. Sudden withdrawal from mitochondrial support therapy or anti-epileptic drugs can precipitate acute metabolic decompensation.
Safety Exclusion Criteria & Red Flags
- Exclusion: Patients unable to provide informed consent; minors require a court-appointed guardian in accordance with UAE CDS Law 2026 and genetic counselling prior to sampling.
- Not for emergency diagnosis – this test has a 3–4 week turnaround and is not suitable if the patient is acutely decompensating (seek immediate emergency care).
- Red Flag Symptoms: If you or the patient experience rapid neurological deterioration, seizures, severe lactic acidosis, or coma, proceed to the nearest hospital with a metabolic ICU immediately.
- Post-test: Results require clinical correlation; incidental findings will be disclosed per UAE PDPL and patient’s pre-test consent.
Patient FAQ & Clinical Guidance
Q: What is the MRPL44 gene test and why is it performed?
This test analyses the MRPL44 gene for mutations causing Combined Oxidative Phosphorylation Deficiency Type 16 (COXPD16), a rare mitochondrial disorder affecting energy production in multiple organs. It is typically ordered when a patient presents with unexplained lactic acidosis, hypotonia, developmental delay, or multi-system involvement, and a mitochondrial aetiology is suspected. Confirming a genetic diagnosis stops the diagnostic odyssey, guides targeted management, and facilitates family cascade testing.
س: ما هو تحليل جين MRPL44 ولماذا يُجرى؟
يقوم هذا التحليل بفحص جين MRPL44 للكشف عن الطفرات المسببة لنقص الأكسدة الفسفورية المشترك من النوع 16، وهو اضطراب ميتوكوندري نادر يؤثر على إنتاج الطاقة في أعضاء متعددة. يُطلب غالباً عند وجود حماض لاكتيكي غير مفسر أو نقص توتر عضلي أو تأخر نمائي.
Q: How is the sample collected and what is the turnaround time?
A small blood sample, extracted DNA, or a single drop of blood on an FTA card is collected by a trained phlebotomist during a home visit or at our facility within 8 AM – 11 PM. The sample is transported under cold-chain conditions to our ISO 9001:2015 certified laboratory. The test uses next-generation sequencing with confirmatory Sanger sequencing, and the final clinical report is issued in 3 to 4 weeks. You can schedule collection via WhatsApp at +971 54 548 8731.
س: كيف يتم جمع العينة وما هي مدة الحصول على النتيجة؟
يتم جمع عينة دم صغيرة أو الحمض النووي المستخلص أو قطرة دم على بطاقة FTA بواسطة مختص خلال زيارة منزلية من الساعة 8 صباحاً حتى 11 مساءً. تُنقل العينة تحت سلسلة تبريد إلى المختبر المعتمد ISO 9001:2015، وتظهر النتيجة النهائية خلال 3 إلى 4 أسابيع.
Q: Are there any risks or special preparations before the test?
There are no physical risks beyond routine venipuncture; however, mandatory pre- genetic counselling is required to understand the emotional and familial implications of the result. No fasting or medication changes are needed, but you should inform the laboratory of any recent blood transfusions as they may affect DNA purity. In compliance with UAE Federal Decree-Law No. 41 of 2024 and CDS Law 2026, all data is handled with strict privacy, and informed consent is obtained before any analysis.
س: هل توجد أي مخاطر أو تحضيرات خاصة قبل التحليل؟
لا توجد أي مخاطر جسدية تتجاوز سحب الدم الروتيني، ولكن الاستشارة الوراثية قبل التحليل إلزامية لفهم الآثار العاطفية والعائلية للنتيجة. لا يلزم الصيام أو تغيير الأدوية، مع مراعاة القوانين الإماراتية لحماية البيانات والخصوصية.
UAE Compliance
- Federal Decree-Law No. 41 of 2024, Art. 87 – Genetic Data Protection
- Consent for Minors under CDS Law 2026
- UAE PDPL – Data Privacy Assurance
- DHA Facility License: 9834453
Quality Certifications
ISO 9001:2015
Cert: INT/EGQ/2509DA/3139
DHA-Approved Laboratory
loinc.org LOINC 85872-3
2026 ICD-10-CM Codes: E88.49 (Other disorders of mitochondrial metabolism), G71.3 (Mitochondrial myopathy, not elsewhere classified), Z13.79 (Encounter for screening for other genetic and chromosomal anomalies)
LOINC: 85872-3 – Targeted gene sequencing (MRPL44)
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توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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All reports reviewed by DHA-Certified physicians