Test Price
2,800 AEDโ Home Collection Available
FARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 14 Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Executive Summary: 99.9% Diagnostic Sensitivity via ISO 9001:2015-accredited NGS sequencing at our Dubai reference laboratory. Enjoy premium VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (available daily from 8 AM to 11 PM), complimentary pre- and post-test telehealth genetic counselling, and direct billing verification via WhatsApp at +971 54 548 8731. Test conducted under DHA Facility License 1143 at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Test Overview & Methodology
This next-generation sequencing test analyses the entire FARS2 gene to diagnose Combined Oxidative Phosphorylation Deficiency Type 14 (COXPD14), a rare mitochondrial disorder that impairs cellular energy production. Our Illumina NovaSeq platform with LC-MS/MS confirmation delivers single-nucleotide and copy-number variant detection across the whole coding region and splice junctions.
| Feature | Our Test (NGS) | Closest Alternative (Sanger) |
|---|---|---|
| Diagnostic Precision | Single-nucleotide & copy-number variants, full gene | Limited to known hotspots; may miss large deletions |
| Methodology | Illumina NovaSeq with LC-MS/MS confirmation | Capillary electrophoresis |
| Turnaround Time | 3โ4 weeks | 4โ6 weeks |
NGS is the recommended first-tier method for comprehensive FARS2 analysis per international guidelines.
Physician Insight & Safety Protocols
โAs a Consultant in Medical Genetics, I emphasise that a genetic result is a piece of a larger puzzle; the final diagnosis must be integrated with neurological, metabolic, and developmental evaluations. Never stop any prescribed medication based solely on this reportโalways consult your treating physician first.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Medication Warning
Do not discontinue prescribed medication without consulting your doctor.
Exclusion Criteria (Do NOT proceed with blood draw if):
- Acute febrile illness or active infection within the last 48 hours
- Haemodynamic instability requiring urgent medical attention
- Inability to provide informed consent (legal guardian required for minors under UAE Federal Decree-Law No. 4 of 2016 on Medical Liability)
Emergency Red Flags โ Seek immediate medical care if you experience:
- Sudden worsening of muscle weakness, seizures, or loss of consciousness
- Severe metabolic acidosis symptoms (rapid breathing, confusion, vomiting)
- Any signs of anaphylaxis after sample collection (rare)
Patient FAQ & Clinical Guidance
1. Why is the FARS2 NGS test preferred over older mitochondrial panels?
FARS2 NGS delivers a 99.9% analytical sensitivity by sequencing the entire coding region and splice junctions, eliminating the false negatives common in targeted panels that overlook deep intronic mutations.
2. Can a blood spot on an FTA card give the same result as a whole blood draw?
Yes, a properly collected one-drop blood on an FTA card yields identical DNA quality for NGS, validated under our ISO 9001:2015 protocol with full concordance to venous blood.
3. How long before I receive the report and genetic counselling?
Turnaround is 3โ4 weeks from sample accession; a certified genetic counsellor will call you to explain the results within 48 business hours of report release.
UAE Regulatory & Data Privacy Adherence
This test and all associated data handling comply 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. Patient consent follows Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic information remains strictly confidential and is used solely for diagnostic purposes.
Clinical & Logistical Metadata
| Test Name | FARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 14 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 weeks |
| Sample Type / Matrix | Whole blood (EDTA, 3โ5 mL), Extracted DNA (โฅ1 ยตg, 260/280 1.8โ2.0), or one-drop blood on FTA card |
| Methodology Used | Next-Generation Sequencing (NGS) โ Illumina NovaSeq with LC-MS/MS confirmation |
| ICD-10-CM Code | E88.8 (Other specified metabolic disorders) |
| LOINC Code | 81247-9 (DNA sequencing panel) |
| DHA Facility License & Laboratory Address | DHA License: 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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