Also known as: Combined Oxidative Phosphorylation Deficiency Type 2 Genetic Test
Test Price
2,800 AEDโ Home Collection Available
๐ Results in 3โ4 Weeks
MRPS16 Gene โ Combined Oxidative Phosphorylation Deficiency Type 2 Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
- โ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited NGS Processing (Illumina NovaSeq X Plus).
- โ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available Daily 8 AMโ11 PM.
- โ Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation by a DHA-licensed specialist.
- โ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
This precise genetic analysis using advanced Next-Generation Sequencing provides reliable diagnosis of Combined Oxidative Phosphorylation Deficiency Type 2, with quality assurance under ISO 9001:2015 certification and full compliance with UAE federal data protection and health frameworks.
Test Overview & Methodology
The MRPS16 Gene Genetic Test provides a definitive diagnosis of Combined Oxidative Phosphorylation Deficiency Type 2 (COXPD2) by screening for pathogenic variants in the MRPS16 gene using high-coverage Next-Generation Sequencing with >99.9% analytical sensitivity. This test is ideal for patients with unexplained metabolic acidosis, hypotonia, and multisystem mitochondrial dysfunction, offering actionable data for genetic counseling and personalized management.
| Feature | Our MRPS16 NGS Test | Closest Alternative (PCR Panel) |
|---|---|---|
| Diagnostic Precision | Full gene coverage, down to single nucleotide variants & indels | Targeted hotspot only, may miss rare pathogenic variants |
| Methodology | Next-Generation Sequencing (Illumina NovaSeq X Plus, 150bp PE) | Sanger sequencing of limited exons |
| Turnaround Time | 3โ4 Weeks (rigorous bioinformatics & clinical validation) | 1โ2 Weeks (without comprehensive variant interpretation) |
Physician Insight & Safety Protocols
โAs a Consultant Medical Genetics, I understand that genetic testing can be overwhelming; this test provides clarity, but results must be interpreted in the context of full clinical and family history. I strongly recommend a thorough genetic counseling session before and after testing to ensure fully informed decisions.โ โ Lina Osama Zaki Quteineh (DHA: 9294403)
Medication Advisory
Do not discontinue prescribed medication without consulting your doctor. Genetic results may inform future treatment adjustments but should never replace current clinical management.
Patient Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients who are medically unstable or unable to tolerate blood draw; active infection requiring urgent intervention.
- ER Red Flags: Sudden deterioration in consciousness, severe metabolic crisis, intractable seizures, or respiratory distress. Seek immediate hospital care.
Patient FAQ & Clinical Guidance
1. What is the MRPS16 gene test used for?
This detects mutations in the MRPS16 gene causing combined oxidative phosphorylation deficiency type 2, enabling early diagnosis and management of mitochondrial disease.
2. How is the sample collected?
A simple blood draw is collected via our VIP Mobile Phlebotomy service between 8 AM and 11 PM, with temperature-controlled cold-chain logistics ensuring sample integrity.
3. What does a positive result mean?
A positive result confirms a genetic diagnosis, guiding targeted therapy and family screening under expert genetic counseling.
UAE Regulatory & Data Privacy Adherence
This test is conducted in strict 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. All patient data is encrypted, stored securely, and processed under ISO 9001:2015 certified protocols. The laboratory holds DHA Facility License No. 1143 and operates from Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | MRPS16 Gene โ Combined Oxidative Phosphorylation Deficiency Type 2 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Blood (Whole Blood, EDTA) |
| Methodology Used | Next-Generation Sequencing (NGS) โ Illumina NovaSeq X Plus, 150bp Paired-End |
| ICD-10-CM Code | E74.89 |
| LOINC Code | 82545-9 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
Preparation Required
["No specific fasting required.", "Do not discontinue prescribed medication."]
Medically Reviewed by Dr. Lina Osama Zaki Quteineh
All content reviewed by qualified professionals for accuracy.
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians