Test Price
2,800 AED✅ Home Collection Available
EYA1 Gene Analysis for Branchio‑Oto‑Renal Syndrome Type 1 (NGS) in the UAE
Executive Summary & Core Metrics
Clinical Excellence & Patient Trust
- Diagnostic Sensitivity 99.9% – full gene coverage via ISO‑accredited NGS processing on Illumina platform.
- VIP Mobile Phlebotomy – temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM across all Emirates.
- Post‑test Telephonic Guidance – structured result interpretation and multidisciplinary referral coordination provided at no extra cost.
- Direct Insurance Verification – rapid billing clearance via WhatsApp +971 54 548 8731.
Test performed under DHA Facility License No. 1143. All genetic data handled in 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.
Test Overview & Methodology
The EYA1 NGS test detects pathogenic variants in the EYA1 gene responsible for Branchio‑Oto‑Renal (BOR) Syndrome Type 1, a rare autosomal dominant disorder affecting renal structure, hearing function, and ocular development. Early molecular confirmation enables proactive surveillance for progressive hearing loss, renal dysplasia, and visual impairment. The assay uses targeted next‑generation sequencing to capture all coding exons and flanking intronic regions, achieving a diagnostic yield that surpasses traditional single‑gene Sanger sequencing.
| Feature | Our Test – Precision NGS | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Diagnostic Sensitivity | 99.9% (full gene coverage including deep intronic regions) | ~97% (targeted exons only) |
| Methodology | Next‑Generation Sequencing (Illumina® platform, >100× depth) | Sanger Sequencing (limited to known hotspots) |
| Turnaround Time | 3–4 Weeks | 5–8 Weeks |
| Variant Interpretation | ACMG 2023 Guidelines, multidisciplinary board review | Basic annotation with limited functional evidence |
Physician Insight & Safety Protocols
“The EYA1 gene analysis provides definitive molecular confirmation for individuals presenting with branchial arch anomalies, sensorineural hearing loss, and renal dysplasia. A positive result mandates coordinated follow‑up with audiology, nephrology, and ophthalmology specialists to preserve organ function. Negative results reduce but do not eliminate the possibility of inherited risk; comprehensive clinical evaluation remains essential. Patients should continue all prescribed therapies and surveillance protocols unless their treating physician advises otherwise.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory Notice – Clinical Management
Genetic test results must be interpreted within the full clinical context. Individuals should not alter or discontinue prescribed medications, hearing aids, or renal monitoring schedules without explicit guidance from their treating physician.
This assay is a diagnostic aid and does not replace comprehensive clinical assessment. Independent modification of drug regimens or surveillance plans may lead to irreversible harm.
Exclusion Criteria & Emergency Red Flags
- Specimens cannot be processed without valid informed consent (parental or guardian consent required for minors per Federal Decree‑Law No. 4 of 2016 on Medical Liability).
- Incomplete pedigree documentation or absence of pre‑test genetic counselling may result in reporting delays.
- Seek immediate emergency care if you experience: sudden unilateral or bilateral vision loss, acute flank pain accompanied by gross haematuria, or rapid deterioration of hearing over hours to days.
Patient FAQ & Clinical Guidance
1. What does the EYA1 gene analysis diagnose?
The test detects disease‑causing variants in the EYA1 gene that confirm Branchio‑Oto‑Renal Syndrome Type 1 with 99.9% diagnostic sensitivity. It is indicated for individuals presenting with branchial arch fistulae or cysts, pre‑auricular pits, hearing impairment, and renal structural anomalies. A definitive molecular diagnosis guides prognosis, family screening, and coordinated specialist care.
2. How is the sample collected and what are the logistical steps?
A single peripheral whole blood draw (3–5 mL in an EDTA tube) or a dried blood spot on an FTA card is sufficient. Our DHA‑licensed mobile phlebotomy team provides temperature‑controlled home collection across all Emirates, operating daily from 8 AM to 11 PM. Samples are transported under cold‑chain conditions to our Dubai Healthcare City laboratory for processing.
3. What do my results mean and what are the recommended next steps?
A positive result confirms BOR syndrome Type 1 and requires urgent multidisciplinary follow‑up with audiology for hearing intervention, nephrology for renal function monitoring, and ophthalmology for visual assessment. A negative result reduces the likelihood of a pathogenic EYA1 variant but does not exclude inherited risk from other genes or non‑genetic aetiologies. All results are reviewed by a Consultant Medical Geneticist who provides a written interpretive report and telephonic guidance.
UAE Regulatory & Data Privacy Adherence
Your Data. Your Rights. Our Commitment.
All genetic and personal data processed during this test is protected 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. Results are encrypted, access‑controlled, and never shared with third parties without explicit patient consent. You have the right to access your data, request rectification, and withdraw consent at any stage. Our laboratory infrastructure complies with ISO 27001 information security standards and DHA regulatory requirements for genomic data handling.
Clinical & Logistical Metadata
| Test Name | EYA1 Gene Analysis for Branchio‑Oto‑Renal Syndrome Type 1 (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (3–5 mL in EDTA tube) or FTA Card Blood Spot |
| Methodology Used | Next‑Generation Sequencing (Illumina® Platform, >100× depth) |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 51955-6 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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