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Test Price

2,800 AED

✅ 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 3–4 weeks 4–6 weeks

NGS is the recommended first-tier method for comprehensive FARS2 analysis per international guidelines.

Physician Insight & Safety Protocols

“As 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 report—always consult your treating physician first.”

— 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 – 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 3–4 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 3–4 weeks
Sample Type / Matrix Whole blood (EDTA, 3–5 mL), Extracted DNA (≥1 µg, 260/280 1.8–2.0), or one-drop blood on FTA card
Methodology Used Next-Generation Sequencing (NGS) – 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 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE

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