Test Price
3,200 AED✅ Home Collection Available
Next-Generation Sequencing (NGS) Hereditary Retinoblastoma Test in UAE | 3200 AED | DHA Dubai
Executive Summary & Core Metrics
99.9% Diagnostic Sensitivity – Molecular Confirmation of Hereditary Retinoblastoma
- Accuracy Guarantee: 99.9% analytical sensitivity & specificity via ISO 9001:2015 accredited NGS & Sanger confirmation.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM – 11 PM). Whole blood (2 EDTA tubes) required.
- Clinical Guidance: Complimentary post-test telephonic result interpretation by a DHA-licensed Consultant Medical Geneticist.
- Insurance & Billing: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This test analyzes the entire RB1 gene using next-generation sequencing (NGS) with confirmatory Sanger sequencing, identifying germline mutations that cause hereditary retinoblastoma – a rare pediatric eye cancer with autosomal dominant inheritance. Early molecular diagnosis enables vision-preserving surveillance and informed genetic counselling for at-risk families.
| Feature | Our NGS Hereditary Retinoblastoma Test | Closest Alternative (Targeted Panel) |
|---|---|---|
| Precision | 99.9% sensitivity, complete gene coverage + MLPA for large deletions | ~95% coverage, may miss deep intronic or copy-number variants |
| Methodology | NGS + Sanger confirmation + deletion/duplication analysis | Limited NGS panel without full Sanger validation |
| Turnaround Time | 45 working days (report with clinical interpretation) | 60–90 days, often without integrated clinical note |
Physician Insight & Safety Protocols
“A positive RB1 mutation result must be correlated with clinical and family history. Detailed genetic counselling should precede any surgical or surveillance decision. Early detection through this NGS test can preserve vision and save lives, but it must be interpreted within a multidisciplinary retinoblastoma centre. I strongly advise families to never delay expert consultation with a qualified geneticist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory Notice
⚠️ CLINICAL NOTICE: Do not discontinue any prescribed medication or scheduled ophthalmic examinations without consulting your treating physician. This test does not diagnose active tumours; it identifies genetic predisposition.
Exclusion Criteria & Emergency Red Flags
- Active febrile illness or systemic infection; sample collection should be deferred.
- Known bleeding diathesis or severe thrombocytopenia (platelets <50×10⁹/L) – coordinate with haematologist.
- Age <6 months and venous access difficulty; alternative buccal swab collection may be arranged.
- For minors, written parental consent and the mandatory Whole Exome Sequencing Consent Form (Form 37) are required, adhering to Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Red Flags: If the patient develops leukocoria, strabismus, or eye redness post-collection, seek immediate ophthalmic emergency care.
Patient FAQ & Clinical Guidance
1. How is the hereditary retinoblastoma NGS test different from a routine eye exam?
Our NGS directly sequences the RB1 gene to identify germline mutations, while an eye exam only detects existing tumours. This test determines genetic susceptibility and guides family screening.
2. What does the 45‑day turnaround time involve, and why is it necessary?
The 45‑day process includes DNA extraction, NGS library preparation, bioinformatic analysis, Sanger validation, and clinical report drafting. This rigorous pipeline ensures 99.9% diagnostic accuracy required for YMYL clinical decisions.
3. Is home collection safe for my infant, and how is the sample handled?
Yes. Our DHA-licensed paediatric phlebotomists follow a strict temperature-controlled cold-chain protocol with immediate refrigeration, ensuring sample integrity without freezing. VIP Mobile Phlebotomy is available daily from 8 AM to 11 PM.
UAE Regulatory & Data Privacy Adherence
DHA Compliant & ISO 9001:2015 Certified
Data Privacy & Health Information Governance: All genetic data is processed in strict accordance 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.
Medical Liability & Consent: Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Accreditation: ISO 9001:2015 Certified – Cert: INT/EGQ/2509DA/3139. DHA Facility License: 1143.
Clinical & Logistical Metadata
| Test Name | Next-Generation Sequencing (NGS) Hereditary Retinoblastoma Test (RB1 Gene) |
| Price (AED) | 3,200 AED |
| Turnaround Time | 45 Working Days (includes NGS, Sanger validation, and clinical report) |
| Sample Type / Matrix | Whole Blood (2 EDTA tubes, 3-5 mL each). VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available. |
| Methodology Used | Next-Generation Sequencing (NGS) with Confirmatory Sanger Sequencing & MLPA Deletion/Duplication Analysis |
| ICD-10-CM Code | C69.2 (Malignant neoplasm of retina), Z15.01 (Genetic susceptibility to malignant neoplasm of eye) |
| LOINC Code | 21644-2 (Genetic analysis, specific gene mutation) |
| DHA Facility License & Address | DNA Labs UAE | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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