Test Price
2,800 AED✅ Home Collection Available
C12ORF65 Gene Combined Oxidative Phosphorylation Deficiency Type 7 Genetic Test in UAE | 2800 AED | DHA-Licensed
Executive Summary & Core Metrics
Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Next-Generation Sequencing (NGS).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Complimentary Telephonic Post-Test Clinical Guidance on result interpretation by a DHA-licensed Consultant Medical Genetics specialist.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731. Most major UAE insurers accepted.
Test Overview & Methodology
The C12ORF65 gene test employs Next-Generation Sequencing (NGS) to detect pathogenic variants in the C12ORF65 gene, which cause Combined Oxidative Phosphorylation Deficiency Type 7 – a rare autosomal recessive mitochondrial disorder disrupting cellular energy production. This investigation is pivotal for confirming a clinical diagnosis, guiding metabolic management, and informing family planning decisions.
| Feature | Our NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Targeted Gene | Full C12ORF65 coding sequence + flanking intronic regions | Single exon or known mutation only |
| Methodology | NGS (Illumina platform) with 30x average coverage | Sanger bidirectional capillary electrophoresis |
| Report Speed | 3–4 Weeks | 2–3 Weeks |
| Clinical Reporting | ACMG-compliant variant classification + clinical correlation | Presence/absence of targeted variant |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I recognize the profound implications that accompany a genetic diagnosis. The NGS assay for C12ORF65 delivers exceptional analytical precision, yet it must always be correlated with the full clinical presentation and detailed family pedigree. Patients and families should never discontinue or alter any prescribed therapy without direct consultation with their supervising physician.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory Notice
⚠️ Medication Advisory Notice
Do not stop, start, or modify any prescribed medication, dietary supplement, or metabolic formula based solely on this test result. Always consult your supervising specialist before making any therapeutic changes.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria & Emergency Red Flags
- Minors (under 18) must have a legal guardian’s informed consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Pregnant women should only proceed after a specialized genetic counseling session and maternal-fetal medicine clearance.
- If the patient develops acute metabolic decompensation (intractable vomiting, severe lethargy, seizures, or hypoglycemia), seek emergency medical attention immediately; do not wait for test results.
Patient FAQ & Clinical Guidance
1. What exactly does the C12ORF65 gene test diagnose?
The C12ORF65 gene test detects pathogenic variants in the C12ORF65 gene, definitively confirming the diagnosis of Combined Oxidative Phosphorylation Deficiency Type 7, a severe autosomal recessive mitochondrial disorder that impairs ATP synthesis and can manifest with neuromuscular failure, encephalopathy, and multisystem involvement.
2. How quickly will I receive the results in the UAE?
Results are typically finalized within 3 to 4 weeks after the laboratory receives the specimen. Every sample undergoes a rigorous NGS pipeline, orthogonal confirmation, and a board-certified molecular geneticist’s interpretation to ensure a report you can trust.
3. Is home sample collection available across Dubai and Abu Dhabi?
Yes, we offer VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, dispatching an ISO-certified phlebotomist to your residence, office, or hotel across all emirates including Dubai, Abu Dhabi, Sharjah, and the Northern Emirates. Service is available daily from 8 AM to 11 PM with strict cold-chain transport that preserves DNA integrity.
4. Will my insurance cover the cost of this genetic test?
Most major UAE insurers provide coverage for clinically indicated genetic testing. You can verify your direct billing eligibility by contacting our WhatsApp support line at +971 54 548 8731. Our team will assist with pre-authorization documentation and claim submission.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection Framework
- Data Privacy: Fully compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). All genetic data is encrypted, access-controlled, and processed solely for diagnostic purposes.
- Health Information Governance: Adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring secure electronic health record handling.
- Clinical Safety & Consent: Patient consent and clinical safety protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Accreditation: ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) with rigorous internal and external quality control audits.
Clinical & Logistical Metadata
| Test Name | C12ORF65 Gene Combined Oxidative Phosphorylation Deficiency Type 7 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina Platform |
| ICD-10-CM Code | E88.8 |
| LOINC Code | 94828-4 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 DNA Labs UAE Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians