Test Price
2,800 AEDโ Home Collection Available
EYA1 Gene Branchiootic Syndrome Type 1 Genetic Test in UAE | 2,800 AED | DHA-Licensed Molecular Diagnostics
Executive Summary & Core Metrics
Clinical Overview: This NGS-based genetic test targets the EYA1 gene associated with Branchiootic Syndrome Type 1 โ a rare autosomal dominant disorder characterized by branchial cleft anomalies, preauricular pits, structural ear malformations, and sensorineural or conductive hearing loss. The test achieves 99.9% diagnostic sensitivity through ISO 9001:2015-accredited processing (Cert: INT/EGQ/2509DA/3139), employing Next-Generation Sequencing technology with full coding-region coverage and variant interpretation per ACMG guidelines. Price: 2,800 AED inclusive of hospital-grade cold-chain home collection (8 AM โ 11 PM), VIP mobile phlebotomy, and telephonic post-test clinical guidance from a board-certified Consultant Medical Geneticist.
Test Overview & Methodology
The EYA1 Gene Branchiootic Syndrome Type 1 Genetic Test is a definitive molecular diagnostic tool designed to identify pathogenic variants in the EYA1 gene locus (8q13.3), enabling precise diagnosis of Branchiootic Syndrome Type 1 and differentiation from overlapping branchiootorenal (BOR) spectrum disorders. This test is clinically indicated for patients presenting with congenital ear anomalies accompanied by branchial cleft fistulae or preauricular tags, and it serves as an essential component in guiding otologic surgical planning, audiological rehabilitation, and familial genetic risk stratification within the UAE population.
| Parameter | Our Test (ISO-Certified) | Closest Alternative |
|---|---|---|
| Precision | Full EYA1 Coding Region + Splice Sites (NGS, 100x Mean Depth) | Targeted Hotspot Panel Only |
| Methodology | Illumina NovaSeq NGS + Sanger Confirmation | Capillary Sequencing (Sanger Only) |
| Turnaround Speed | 3 to 4 Weeks with Expedited Option Available | 6 to 8 Weeks |
| Variant Interpretation | ACMG Criteria + ClinVar-Anchored Annotation | Basic ACMG 2015 Guidelines |
| Home Collection | ISO-Certified Cold-Chain (8 AM โ 11 PM) | Clinic-Only or Non-Refrigerated Courier |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (DHA Registration ID: 9294403) โ Consultant Medical Genetics: "A positive EYA1 pathogenic variant confirms the molecular diagnosis of Branchiootic Syndrome Type 1; however, it must always be correlated with comprehensive clinical audiological evaluation and temporal bone imaging. A negative result does not exclude the condition, as non-coding regulatory variants or copy-number changes beyond the NGS detection threshold may still be causative. I strongly recommend pre-test and post-test genetic counselling to ensure patients and families fully understand the autosomal dominant inheritance pattern and the 50% recurrence risk for offspring."
Medication Advisory & Clinical Precautions
Medication Advisory
Do not discontinue prescribed medication โ including ototoxic monitoring regimens, corticosteroid therapies, or any ENT-related pharmacotherapy โ without consulting your treating physician. Genetic test results inform long-term management strategies and must not prompt unsupervised changes to current treatment plans. Patients on high-dose biotin (>5 mg/day) should discontinue supplementation 72 hours prior to blood draw to prevent assay interference.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria (Do Not Proceed Without Physician Clearance):
- Active systemic infection with fever greater than 38.5ยฐC at time of scheduled collection
- Recent blood transfusion (within 4 weeks) โ may cause donor DNA contamination
- Current hospitalisation in intensive or high-dependency care units
- Inability to provide informed consent (patient or legally authorised representative required per UAE PDPL framework for minors)
Emergency Red Flags โ Seek Immediate Medical Attention:
- Sudden acute hearing loss or vertigo with nausea and vomiting
- Purulent discharge from branchial fistula with spreading cellulitis or facial swelling
- Signs of meningitis: severe headache, photophobia, neck stiffness, and high-grade fever
- Acute airway compromise associated with branchial cleft cyst enlargement
Patient FAQ & Clinical Guidance
1. What is the EYA1 Gene Branchiootic Syndrome Type 1 Genetic Test and why would my ENT doctor recommend it?
This test uses Next-Generation Sequencing to comprehensively analyse the entire coding region of the EYA1 gene, identifying pathogenic variants that cause Branchiootic Syndrome Type 1 โ your ENT specialist recommends it to confirm the molecular diagnosis when you present with branchial cleft anomalies and congenital ear malformations, thereby guiding precise surgical planning and audiological management. The test also enables cascade screening of at-risk family members.
2. How long does it take to receive results and what happens after the report is issued?
Results are delivered within three to four weeks from sample receipt, after which you receive a scheduled telephonic post-test clinical guidance session with our Consultant Medical Geneticist who explains the variant classification, its clinical significance for your hearing and renal health surveillance, and the implications for at-risk family members who may also benefit from cascade testing. A dual-specialist signed report is issued for your medical records.
3. Does health insurance in the UAE cover the 2,800 AED cost for this genetic test?
Many UAE insurance providers cover medically indicated genetic testing when supported by a referral letter from a DHA-licensed ENT or Clinical Genetics specialist โ we offer direct billing verification via WhatsApp at +971 54 548 8731 where our team confirms your policy coverage within two working hours. For self-pay patients, we provide an itemised DHA-compliant invoice for potential reimbursement claims from your insurer.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
Data Privacy & Health Information Governance:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ full encryption and anonymised storage of genetic data
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ secure electronic health record integration
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ governs patient consent, clinical safety, and duty of care in genetic testing
Quality Assurance & Accreditation:
- ISO 9001:2015 โ Cert: INT/EGQ/2509DA/3139
- External Quality Assessment (EQA) โ EMQN / UK NEQAS Molecular Genetics
- ACMG Variant Interpretation Framework
- All reports undergo dual-specialist sign-off (Clinical Geneticist + ENT Consultant)
Clinical & Logistical Metadata
| Test Name | EYA1 Gene Branchiootic Syndrome Type 1 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA, 3โ5 mL) or Extracted DNA (โฅ1 ยตg, A260/A280: 1.8โ2.0) |
| Methodology Used | Next-Generation Sequencing (Illumina NovaSeq) with Sanger Confirmation, full coding region + splice sites |
| ICD-10-CM Code | Q87.0 |
| LOINC Code | 94219-4 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
Book Your EYA1 Gene Branchiootic Syndrome Type 1 NGS Today
ISO-Certified Cold-Chain Home Collection | 8 AM โ 11 PM | DHA Facility License: 1143
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All reports reviewed by DHA-Certified physicians