Test Price
2,800 AED✅ Home Collection Available
EYA1 Gene Branchiootic Syndrome Type 1 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل تسلسل جين EYA1 لمتلازمة البرانشيوتك من النوع الأول في دولة الإمارات العربية المتحدة | 2800 درهم إماراتي | وفق إرشادات هيئة الصحة بدبي لعام 2026
Executive Summary — الملخص التنفيذي
English: This NGS-based genetic test targets the EYA1 gene associated with Branchiootic Syndrome Type 1 — a rare autosomal dominant disorder characterized by branchial cleft anomalies, preauricular pits, structural ear malformations, and sensorineural or conductive hearing loss. Delivered with 99.9% diagnostic sensitivity through ISO 9001:2015-accredited processing (Cert: INT/EGQ/2509DA/3139), the test employs Next-Generation Sequencing technology with full coding-region coverage and variant interpretation per ACMG 2026 guidelines. Price: 2,800 AED inclusive of hospital-grade cold-chain home collection (8 AM – 11 PM), VIP mobile phlebotomy, and telephonic post-test clinical guidance.
العربية (الفصحى الطبية): يقدم هذا الفحص الجيني المتقدم باستخدام تقنية التسلسل من الجيل التالي تحليلاً شاملاً لجين EYA1 المرتبط بمتلازمة البرانشيوتك من النوع الأول — وهو اضطراب وراثي جسدي سائد نادر يتميز بتشوهات الأقواس الخيشومية وانخفاضات أمام الأذن وتشوهات هيكلية في الأذن وفقدان السمع الحسي العصبي أو التوصيلي. بدقة تشخيصية تبلغ 99.9% عبر مختبر معتمد بموجب شهادة الأيزو 9001:2015. السعر: 2800 درهم إماراتي شاملة خدمة السحب المنزلي المبردة والمعتمدة والإرشاد السريري الهاتفي بعد صدور النتائج.
Clinical Test Overview
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 2026 Criteria + ClinVar-Anchored Annotation | Basic ACMG 2015 Guidelines |
| Home Collection | ISO-Certified Cold-Chain (8 AM – 11 PM) | Clinic-Only or Non-Refrigerated Courier |
Physician Insight & Safety Protocol
Dr. Prabhakar Reddy (DHA License: 61713011) — "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: Do not discontinue prescribed medication — including ototoxic monitoring regimens, corticosteroid therapies, or any ENT-related pharmacotherapy — without consulting your treating physician. Genetic test results inform long-term management strategies and must not prompt unsupervised changes to current treatment plans.
🛡 Exclusion Criteria & Emergency Red Flags
Exclusion Criteria (Do Not Proceed Without Physician Clearance):
- Active systemic infection with fever greater than 38.5°C at time of scheduled collection
- Recent blood transfusion (within 4 weeks) — 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 CDS Law 2026 for minors)
Emergency Red Flags — 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
Pre-Test Requirements & Specimen Logistics
Prior to sample collection, patients must attend a genetic counselling session to document a detailed clinical history and construct a three-generation pedigree chart identifying family members affected by EYA1-associated Branchiootic Syndrome. This session is essential for accurate variant interpretation and inheritance pattern confirmation.
Accepted Specimen Types:
- Whole Blood (EDTA, 3–5 mL)
- Extracted DNA (≥1 µg, A260/A280: 1.8–2.0)
- One Drop Blood on FTA Card
Transport & Stability:
- Cold-Chain: 2–8°C (ISO-Certified)
- FTA Cards: Ambient Temperature
- DNA: -20°C if delayed beyond 72 hours
Documentation Required:
- Clinical history summary & pedigree chart
- Signed informed consent form
- DHA-validated requisition form
UAE Regulatory Compliance & Accreditation
Legal Framework:
- Federal Decree-Law No. 41 of 2024 (Article 87) — Genetic Testing & Data Confidentiality
- CDS Law 2026 — Minors' Genetic Testing Requires Court-Appointed Guardian Consent
- UAE PDPL — Personal Data Protection Law, Full Encryption & Anonymised Storage
- DHA Facility License: 9834453
Quality Assurance:
- ISO 9001:2015 — Cert: INT/EGQ/2509DA/3139
- External Quality Assessment (EQA) — EMQN / UK NEQAS Molecular Genetics
- ACMG 2026 Variant Interpretation Framework
- All reports undergo dual-specialist sign-off (Clinical Geneticist + ENT Consultant)
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 — 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.
السؤال بالعربية: ما هو تحليل تسلسل جين EYA1 لمتلازمة البرانشيوتك ولماذا يوصي به طبيب الأنف والأذن والحنجرة؟
يستخدم هذا الفحص تقنية التسلسل من الجيل التالي لتحليل كامل المنطقة المشفّرة لجين EYA1 وتحديد الطفرات المسببة لمتلازمة البرانشيوتك من النوع الأول، ويوصي به طبيب الأنف والأذن والحنجرة لتأكيد التشخيص الجزيئي عند وجود تشوهات الأقواس الخيشومية وتشوهات الأذن الخلقية، مما يساعد في توجيه الخطة الجراحية والتأهيل السمعي بدقة عالية.
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 genetic counsellor 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.
السؤال بالعربية: كم تستغرق النتائج وماذا يحدث بعد صدور التقرير؟
تُصدر النتائج خلال ثلاثة إلى أربعة أسابيع من استلام العينة، وبعدها تحصل على جلسة إرشاد سريري هاتفية مجدولة مع مستشارنا الوراثي الذي يشرح تصنيف الطفرة وأهميتها السريرية لمتابعة صحة السمع والكلى والآثار المترتبة على أفراد الأسرة المعرضين للخطر.
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 — we offer direct billing verification via WhatsApp at +971 54 548 8731 where our team confirms your policy coverage within two working hours, and for self-pay patients, we provide an itemised DHA-compliant invoice for potential reimbursement claims.
السؤال بالعربية: هل يغطي التأمين الصحي في الإمارات تكلفة هذا الفحص الجيني البالغة 2800 درهم؟
تغطي العديد من شركات التأمين في الإمارات الفحوصات الجينية ذات الدواعي الطبية عند تقديم خطاب إحالة من طبيب أنف وأذن وحنجرة أو استشاري وراثة سريرية مرخص من هيئة الصحة بدبي، ونوفر خدمة التحقق المباشر من التغطية التأمينية عبر الواتساب على الرقم 971545488731+ خلال ساعتي عمل، ونقدم فاتورة مفصلة معتمدة للمطالبة بالاسترداد.
Book Your EYA1 Gene Branchiootic Syndrome Type 1 NGS Today
ISO-Certified Cold-Chain Home Collection | 8 AM – 11 PM | DHA Facility License: 9834453
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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.
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All reports reviewed by DHA-Certified physicians