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Test Price

2,800 AED

✅ Home Collection Available

GTPBP3 Gene Combined Oxidative Phosphorylation Deficiency Type 23 Genetic Test

Executive Summary & Core Metrics

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
  • Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (available daily 8 AM–11 PM).
  • Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation by DHA-licensed experts.
  • Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The GTPBP3 Gene Combined Oxidative Phosphorylation Deficiency Type 23 (COXPD23) Genetic Test utilizes next‑generation sequencing to comprehensively analyse the entire GTPBP3 coding region. This advanced assay identifies pathogenic variants responsible for a rare mitochondrial disorder, enabling precise diagnosis, carrier screening, and informed family planning.

Feature Our Test (DNA Labs UAE) Closest Alternative
Methodology Full‑gene NGS (Illumina® platform, coverage >99.9%) Targeted mutation panel (limited variants)
Turnaround Time 3–4 Weeks (expedited available) 6–8 Weeks
Included services Pre‑test genetic counselling, ISO cold‑chain logistics, post‑test clinical guidance Often lab‑only, no counselling
Regulatory compliance DHA/MOHAP accredited, UAE PDPL & Federal Law No. 2 of 2019 May lack local accreditation

Physician Insight & Safety Protocols

“As a DHA-licensed Consultant Medical Genetics, I ensure every GTPBP3 report is interpreted in the wider clinical picture. A genetic finding is not a standalone diagnosis; it’s a piece of a complex puzzle that requires correlation with biochemical and neurological assessments. Your care team will guide you through the next steps.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Medication Advisory

Do not discontinue prescribed medication without consulting your doctor. Stopping metabolic therapies abruptly may provoke life‑threatening decompensation.

Exclusion Criteria & Emergency Red Flags

  • Patients in acute metabolic crisis, hemodynamic instability, or those unable to provide informed consent are not eligible for home collection. Hospital referral is required.
  • Sudden onset of severe lethargy, intractable vomiting, seizures, or rapid breathing – seek immediate emergency care.

Patient FAQ & Clinical Guidance

1. What is the GTPBP3 gene test and how is it performed?

This Next‑Generation Sequencing test comprehensively screens the entire GTPBP3 gene for pathogenic variants linked to mitochondrial complex V deficiency, using a simple blood draw or buccal swab.

2. Who should consider this test and what do the results mean?

Individuals with unexplained neurological symptoms, family history of metabolic disorders, or couples planning pregnancy should consider testing; a positive result identifies a causative mutation that guides management and reproductive options.

3. How does the home collection service work and is insurance accepted?

A DHA‑licensed phlebotomist arrives at your location with a temperature‑controlled transport kit, collects the sample in under 15 minutes, and insurance pre‑approval is verified instantly via WhatsApp at +971545488731.

UAE Regulatory & Data Privacy Adherence

All genetic data is handled under 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 testing safety and patient consent comply with Federal Decree-Law No. 4 of 2016 on Medical Liability.

Accreditation: ISO 9001:2015 Certified (INT/EGQ/2509DA/3139). DHA Facility License: 1143.

Clinical & Logistical Metadata

Test Name GTPBP3 Gene Combined Oxidative Phosphorylation Deficiency Type 23 Genetic Test
Price (AED) 2,800 AED
Turnaround Time 3–4 Weeks (expedited available)
Sample Type / Matrix Whole blood or buccal swab
Methodology Used Full-gene NGS (Illumina® platform, coverage >99.9%)
ICD-10-CM Code E88.49, Z14.8, Z13.79
LOINC Code 103318-6
DHA Facility License & Laboratory Address License No. 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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