Test Price
2,800 AEDโ Home Collection Available
MRPL44 Gene โ Combined Oxidative Phosphorylation Deficiency Type 16 (COXPD16) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Core Metrics & Service Guarantees
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM across UAE.
- Clinical Guidance: Complimentary telephonic post-test clinical guidance in result interpretation by a DHA-licensed Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
- Pricing Transparency: Fixed rate of 2,800 AED with no hidden charges.
Test Overview & Methodology
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. The molecular analysis covers the entire coding region of MRPL44 with deep intronic boundary coverage, ensuring comprehensive variant detection.
| 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 | 3โ4 Weeks | 4โ8 Weeks |
| Clinical Report | ICD-10 & LOINC coded, DHA-compliant PDF with actionable interpretation | May lack standardised coding and local compliance |
Physician Insight & Safety Protocols
"As a Consultant Medical Geneticist in the UAE, I recognise the profound emotional weight that accompanies the search for a definitive molecular diagnosis in mitochondrial disease. The MRPL44 genetic test offers a precise molecular avenue to confirm COXPD16, enabling targeted multi-system surveillance and accurate recurrence risk counselling for families. A pathogenic finding must always be interpreted within the full clinical context by a specialist experienced in mitochondrial medicine."
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Safety Advisory
Do not discontinue prescribed medication without consulting your doctor. Sudden withdrawal from mitochondrial support therapy or anti-epileptic drugs can precipitate acute metabolic decompensation. All medication adjustments must be managed under direct specialist supervision.
Safety Exclusion Criteria & Red Flags
- Exclusion: Patients unable to provide informed consent; minors require a court-appointed guardian in accordance with UAE Federal Decree-Law No. 4 of 2016 on Medical Liability and genetic counselling prior to sampling.
- Not for emergency diagnosis โ this test has a 3โ4 week turnaround and is not suitable if the patient is acutely decompensating (seek immediate emergency care at the nearest hospital).
- 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 the patient's documented pre-test consent preferences.
Patient FAQ & Clinical Guidance
1. 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.
2. How is the sample collected and what is the turnaround time?
A small peripheral whole blood sample is collected by a trained phlebotomist during a VIP mobile home visit or at our facility within 8 AM โ 11 PM. The sample is transported under temperature-controlled 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.
3. Are there any risks or special preparations before the test?
There are no physical risks beyond routine venipuncture; however, mandatory pre-test 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. 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, all data is handled with strict privacy, and informed consent is obtained before any analysis.
4. How are the genetic results interpreted and delivered?
Results are interpreted by a Consultant Medical Geneticist and compiled into a DHA-compliant PDF report containing ICD-10-CM and LOINC coded data. The report includes classification of all detected variants according to ACMG/AMP guidelines, with clear clinical recommendations. A complimentary telephonic consultation is provided to discuss the findings and their implications for you and your family members.
UAE Regulatory & Data Privacy Adherence
Legal & Regulatory Compliance Framework
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic data is processed, stored, and transmitted in full compliance with UAE data protection regulations, ensuring your privacy rights are protected.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Digital health records, electronic test ordering, and telephonic result consultations adhere to this framework for secure health data exchange.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: All clinical testing, patient consent procedures, and safety protocols are governed by this legislation, ensuring accountability and patient safety.
- DHA Facility License: 1143 | Laboratory: DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
Clinical & Logistical Metadata
| Test Name | MRPL44 Gene โ Combined Oxidative Phosphorylation Deficiency Type 16 (COXPD16) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA); VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, Available Daily from 8 AM to 11 PM |
| Methodology Used | High-Depth Next-Generation Sequencing (NGS) on Illumina NovaSeq with Confirmatory Sanger Sequencing |
| ICD-10-CM Code | 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 Code | 85872-3 โ Targeted gene sequencing (MRPL44) |
| DHA Facility License & Laboratory Address | DHA License: 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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