Test Price
2,800 AED✅ Home Collection Available
COX4I2 Gene Dyserythropoietic Anemia Genetic Test in UAE | 2,800 AED | Genetic Diagnostics by DNA Labs UAE
Executive Summary & Core Metrics
Comprehensive Genetic Assessment for Congenital Dyserythropoietic Anemia Type IV
- Diagnostic Accuracy: 99.9% analytical sensitivity and specificity via ISO 9001:2015 accredited Next Generation Sequencing.
- Sample Collection: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection, available daily from 8 AM to 11 PM.
- Post-Test Guidance: Telephonic clinical interpretation provided by a DHA-licensed Consultant Medical Geneticist.
- Billing & Insurance: Direct verification and support via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This molecular diagnostic test employs Next Generation Sequencing (NGS) to detect pathogenic single nucleotide variants and small insertions or deletions within the COX4I2 gene, which is causally linked to congenital dyserythropoietic anemia type IV (CDA IV). Full-gene coverage with deep sequencing depth ensures high-confidence variant calling and simultaneous detection of copy number variations.
| Feature | Our Test – NGS Excellence | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% analytical sensitivity and specificity for COX4I2 variants | ~99% sensitivity; high GC content exons may fail to amplify |
| Methodology | Full-gene NGS with deep coverage and CNV detection | Sanger sequencing of individual exons (no CNV detection, slower) |
| Turnaround Time | 21–28 calendar days with comprehensive report | 28–42 days, often requiring iterative re-sequencing |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403): "Unexplained anemia, fatigue, or pallor beginning in childhood can be the first indication of an inherited bone marrow disorder. The COX4I2 gene test provides definitive molecular evidence for congenital dyserythropoietic anemia type IV, but results must always be interpreted alongside the complete blood count, iron studies, and a three-generation family pedigree. Patients should never adjust iron chelation or transfusion schedules without consulting their specialist."
Medical Advisory – Important Precautions
Do not start, stop, or modify any prescribed medication, including iron chelators, corticosteroids, or transfusions, without explicit approval from your managing physician. This genetic test is designed for confirmatory diagnosis and long-term management planning, not for acute crisis intervention.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria:
Inability to provide informed consent (minors unaccompanied by a legal guardian) and acute hemolytic crisis requiring immediate transfusion. Samples collected within two weeks of a packed red blood cell transfusion may produce unreliable results; consult our genetic counsellor before scheduling.
Emergency Red Flags – Seek Immediate ER Care:
Sudden severe anemia (hemoglobin below 5 g/dL), signs of stroke or myocardial ischemia, acute splenic sequestration, or rapidly progressive heart failure. This test is not indicated for emergency management.
Patient FAQ & Clinical Guidance
1. What is the COX4I2 gene dyserythropoietic anemia test, and why is it performed?
This test uses Next Generation Sequencing to analyze the entire COX4I2 gene for mutations that cause congenital dyserythropoietic anemia type IV (CDA IV). It is ordered when a patient presents with persistent anemia, ineffective erythropoiesis, and a family history suggestive of an inherited bone marrow failure syndrome, providing a definitive molecular diagnosis.
2. How should I prepare for the COX4I2 genetic test?
No fasting or special preparation is required. A standard whole blood sample is collected via peripheral venipuncture. Our VIP mobile phlebotomy service can visit your home between 8 AM and 11 PM, ensuring a temperature-controlled cold chain from collection to laboratory processing.
3. How long do results take and how are they delivered?
Results are typically available within 21 to 28 calendar days. They are delivered through a secure encrypted online portal, and you will receive a telephonic clinical interpretation from a DHA-licensed Consultant Medical Geneticist to explain the findings and their implications.
4. Will my insurance cover this genetic test?
Coverage depends on your specific insurance policy and the medical necessity determination. Our billing team can verify your coverage via WhatsApp at +971 54 548 8731 and assist with pre-authorization documentation.
5. Is genetic counselling available before and after testing?
Yes. Genetic counselling is mandatory prior to testing to ensure informed consent, and it is also provided after results are issued to help you and your family understand the inheritance pattern, recurrence risks, and any implications for relatives.
UAE Regulatory & Data Privacy Adherence
Data Protection & Compliance Framework
ISO 9001:2015 Certified – Certification No. INT/EGQ/2509DA/3139, ensuring rigorous quality management across all laboratory processes.
Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – All genomic and personal data are encrypted, stored on secure servers within the UAE, and processed in full compliance with the PDPL.
Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – Digital health data handling and telemedicine consultations adhere strictly to this federal standard.
Federal Decree-Law No. 4 of 2016 on Medical Liability – Clinical testing safety, patient consent, and professional accountability are governed by this law, ensuring your rights throughout the diagnostic journey.
Clinical & Logistical Metadata
| Test Name | COX4I2 Gene Dyserythropoietic Anemia Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21–28 Calendar Days |
| Sample Type / Matrix | Whole Blood (Peripheral Venipuncture) – VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection Available Daily 8 AM – 11 PM |
| Methodology Used | Next Generation Sequencing (NGS) – Full-Gene Coverage with CNV Detection |
| ICD-10-CM Code | D64.4 |
| LOINC Code | 21663-1 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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