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Test Price

2,800 AED

✅ Home Collection Available

SCO2 Gene Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency Genetic Test

Executive Summary & Core Metrics

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
  • Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
  • Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by a Consultant Medical Geneticist.
  • Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The SCO2 Gene Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency Genetic Test is a cutting-edge next-generation sequencing assay designed to detect pathogenic variants in the SCO2 gene, associated with a severe mitochondrial disorder causing neonatal cardiomyopathy and encephalopathy. This test provides definitive molecular diagnosis for affected infants and carrier status for at-risk family members.

Feature Our Test (ISO/DHA Compliant) Closest Alternative
Precision 99.9% Diagnostic Sensitivity, full gene coverage, high-depth NGS 95% sensitivity, partial gene analysis (Sanger sequencing)
Methodology NGS Technology (Next-Generation Sequencing) based on latest clinical standards Sanger sequencing, limited to known hotspots
Turnaround Time 3 to 4 Weeks, with expedited reporting for neonates 6 to 8 Weeks

Physician Insight & Safety Protocols

"As a Consultant Medical Geneticist, I emphasize that this NGS test for SCO2 deficiency provides crucial molecular confirmation in suspected cases of fatal infantile cardioencephalomyopathy. However, a negative result does not exclude other mitochondrial disorders, and clinical correlation with echocardiogram, brain MRI, and metabolic studies is essential. Please consult with a multidisciplinary team before making treatment decisions." — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Advisory: Medication & Safety Precautions

Do not discontinue prescribed medication without consulting your doctor. This test is intended for diagnostic purposes only and should not replace ongoing clinical management.

Exclusion Criteria & Emergency Red Flags

  • Patients with acute metabolic decompensation or critical illness must be stabilized before genetic sampling.
  • Neonates with suspected Leigh syndrome or severe lactic acidosis require immediate ICU support; sample collection must be coordinated with intensive care.
  • If a known familial mutation is already identified, targeted testing is preferable; contact our genetic counselors for guidance.

Patient FAQ & Clinical Guidance

1. What is the purpose of the SCO2 gene sequencing test?

This advanced genetic test detects mutations in the SCO2 gene to definitively diagnose fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency, enabling precise prognosis and family counseling.

2. How is the sample collected and what is the cost?

A simple blood draw, one drop blood on FTA card, or extracted DNA is collected via our VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection service, available daily from 8 AM to 11 PM. The test costs 2800 AED with insurance direct billing available.

3. When will I receive my results and what support is available?

Turnaround time is 3 to 4 weeks; upon availability, a dedicated genetic counselor will provide telephonic post-test clinical guidance in English to explain findings and implications.

UAE Regulatory & Data Privacy Adherence

UAE Legislative Compliance

All genetic testing and patient data are handled 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. Clinical safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and operates under DHA Facility License 1143.

Clinical & Logistical Metadata

Test Name SCO2 Gene Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency Genetic Test
Price (AED) 2,800 AED
Turnaround Time 3 to 4 Weeks
Sample Type / Matrix Peripheral Whole Blood (3 mL EDTA), FTA Card Spot, or Extracted DNA
Methodology Used Next-Generation Sequencing (NGS) – Full Gene Analysis
ICD-10-CM Code E88.49
LOINC Code 100034-8
DHA Facility License & Laboratory Address DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Facility: DNA Labs UAE

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