Test Price
2,800 AED✅ Home Collection Available
ERCC6L2 Gene Bone Marrow Failure Syndrome Type 2 Genetic Test in UAE
Executive Summary & Core Metrics
Clinical Performance Overview
- Diagnostic Accuracy: 99.9% analytical sensitivity via ISO 9001:2015 accredited NGS pipeline (Cert: INT/EGQ/2509DA/3139).
- Sampling Logistics: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Post-Test Support: Complimentary telephonic clinical guidance for result interpretation and family risk assessment.
- Insurance Facilitation: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The ERCC6L2 genetic test is a comprehensive molecular assay that interrogates the full coding region and splice junctions of the ERCC6L2 gene using next-generation sequencing (NGS). This test identifies pathogenic germline variants responsible for inherited bone marrow failure syndrome type 2, enabling accurate diagnosis, carrier detection, and informed clinical management for affected individuals and at-risk family members.
| Feature | ERCC6L2 NGS Panel | Single Gene Sanger Sequencing |
|---|---|---|
| Analytical Sensitivity | Greater than 99.9% across all exons and splice sites | 80–90% limited to known mutational hotspots |
| Methodology | Next-generation sequencing with advanced bioinformatics | Sanger sequencing for targeted regions only |
| Turnaround Time | 3 to 4 weeks | 4 to 6 weeks |
Physician Insight & Safety Protocols
“The identification of pathogenic variants in ERCC6L2 clarifies the diagnosis of bone marrow failure syndrome type 2, yet results must always be contextualised within the full haematological and familial picture. A negative finding does not exclude other inherited marrow failure disorders, and ongoing haematology follow-up remains critical for comprehensive patient care.”
– Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Critical Advisory: Genetic Results and Medication Management
Never discontinue or adjust prescribed treatments based solely on genetic test results. All therapeutic decisions must be made in consultation with your managing specialist who has access to your complete clinical history.
Exclusion Criteria & Clinical Red Flags
- Test Exclusion: Recent blood transfusion within the past 2 weeks may compromise DNA quality; inability to provide informed consent.
- Emergency Red Flags: Sudden severe bleeding, unexplained extensive bruising, or signs of life-threatening infection require immediate presentation to the nearest emergency department.
Patient FAQ & Clinical Guidance
1. Who should consider this ERCC6L2 genetic test?
Individuals presenting with unexplained cytopenias, a documented family history of bone marrow failure, or clinical features suggestive of an inherited marrow failure syndrome. The test confirms the diagnosis and enables cascade screening of at-risk relatives.
2. How is the test performed and what sample is required?
A standard peripheral blood sample is collected via venipuncture. The specimen is transported under controlled cold-chain conditions to our ISO-accredited laboratory for DNA extraction and next-generation sequencing analysis.
3. How long does it take to receive results and what happens afterward?
Results are available within 3 to 4 weeks. A complimentary post-test genetic counselling session is provided to interpret the clinical implications, discuss inheritance patterns, and outline recommended surveillance or management strategies.
4. What pre-requisites must be fulfilled before testing?
A comprehensive clinical history and a three-generation pedigree chart must be reviewed during a mandatory pre-test genetic counselling session. This ensures accurate variant interpretation and appropriate test selection.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in full 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. All genetic data is encrypted, access-restricted, and processed exclusively for diagnostic purposes with explicit patient consent. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | ERCC6L2 Gene Bone Marrow Failure Syndrome Type 2 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL EDTA tube) |
| Methodology Used | Next-Generation Sequencing (NGS) with full exon and splice site coverage |
| ICD-10-CM Code | D61.09 |
| LOINC Code | 59009-0 |
| 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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