Test Price
2,800 AED✅ Home Collection Available
TSPAN12 Gene Exudative Vitreoretinopathy Type 5 Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Diagnostic Sensitivity: 99.9% across all variant types via next-generation sequencing (NGS) with full gene coverage, deletion/duplication analysis, and ISO 9001:2015 certified processing.
Mobile Phlebotomy Logistics: VIP phlebotomy & temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM. All specimens handled under strict chain-of-custody.
Post-Test Consultation: Complimentary telephonic consultation with a Consultant Medical Geneticist to interpret results and guide clinical management.
Insurance Verification: Direct real‑time check via WhatsApp on +971 54 548 8731. Self‑pay and payment plans also available.
Test Overview & Methodology
This assay employs next-generation sequencing (NGS) to capture the entire coding region and splice site junctions of the TSPAN12 gene, supplemented by multiplex ligation‑dependent probe amplification (MLPA) for copy number variant detection. The analysis is performed in our ISO 9001:2015 certified facility and is specifically designed to confirm or exclude familial exudative vitreoretinopathy type 5, a progressive inherited retinal disorder. Results are reported with pathogenicity scoring per ACMG/AMP guidelines and include carrier status for at‑risk family members.
| Feature | Our Test (ISO 9001:2015 Certified) | Closest Alternative (Standard Ophthalmic Gene Panel) |
|---|---|---|
| Methodology | NGS + full gene + deletion/duplication analysis | Targeted Sanger sequencing (limited coverage) |
| Diagnostic Sensitivity | 99.9% for all variant types | ~90% (misses deep intronic/copy number changes) |
| Turnaround Time | 21–28 Calendar Days | 30–42 Calendar Days |
| Price (AED) | 2,800 AED | ~3,200 AED |
Physician Insight & Safety Protocols
“This molecular test provides definitive evidence for the presence of pathogenic TSPAN12 variants and is an essential complement to clinical ophthalmologic assessment. However, negative results do not rule out all inherited vitreoretinopathies; clinicians must still maintain a high index of suspicion for differential diagnoses such as Norrie disease or CRB1‑associated retinopathy. I recommend combining genetic counselling with each result disclosure to ensure informed medical decisions.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Genetic Testing Advisory
Important: This test is intended to assist clinical diagnosis and should not replace a complete ophthalmic examination, including fundus photography and fluorescein angiography. All positive results must be correlated with clinical presentation before initiating therapy. Do not adjust any current treatments or surveillance intervals solely on the basis of DNA reports.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria & Emergency Red Flags
- Inability to provide a blood or FTA card sample (e.g., severe bleeding disorder).
- Current acute eye infection or recent intraocular surgery may lead to deferring home collection until clinically resolved.
- Sudden vision loss, severe eye pain, or flashes of light warrant immediate ophthalmic emergency care. Do not wait for test results.
Patient FAQ & Clinical Guidance
1. What is the TSPAN12 gene test and why is it performed?
Snippet: This NGS assay scans the full TSPAN12 gene to confirm or rule out familial exudative vitreoretinopathy type 5.
The TSPAN12 gene test detects all mutation types—including missense, nonsense, frameshift, splice site, and copy number variants—using next-generation sequencing and MLPA. It is typically ordered for individuals with abnormal retinal vascular development observed during a dilated eye exam, or for family members of known mutation carriers. A positive result guides personalised monitoring intervals, early interventions (e.g., anti‑VEGF therapy, laser photocoagulation), and informs family planning.
2. How is the sample collected and how long do results take?
Snippet: VIP mobile phlebotomy collects a small blood or FTA card sample at your home during a scheduled visit.
A specialised mobile phlebotomist visits your residence between 8 AM and 11 PM to obtain either a venous blood draw or a finger‑prick sample onto an FTA card. The specimen is transported in a certified temperature‑controlled cold chain to our ISO 9001:2015 laboratory. Full NGS analysis plus MLPA and clinical interpretation are completed within 21–28 calendar days. You will receive a secure digital report and a telephonic consultation with a consultant medical geneticist.
3. Does health insurance in the UAE cover this genetic test?
Snippet: Many UAE insurers cover the TSPAN12 gene test when a medical necessity letter is provided; we verify your coverage upfront.
Coverage depends on your policy and clinical indication. Major Emirati insurers—including Daman and Thiqa—often reimburse genetic testing if accompanied by a referring ophthalmologist’s letter of medical necessity. Our team conducts a direct billing verification via WhatsApp (+971 54 548 8731) before sample collection, so you know your exact financial responsibility. Self‑pay and flexible payment plans are also available for those without coverage.
UAE Regulatory & Data Privacy Adherence
✅ ISO 9001:2015 Certified Lab (Cert: INT/EGQ/2509DA/3139) | Compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) & Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields | All clinical procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability
Clinical & Logistical Metadata
| Test Name | TSPAN12 Gene – Exudative Vitreoretinopathy Type 5 Genetic Test (NGS + MLPA) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21–28 Calendar Days |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or FTA Card (Dried Blood Spot) |
| Methodology Used | Next-Generation Sequencing (NGS) + Multiplex Ligation-Dependent Probe Amplification (MLPA) |
| ICD-10-CM Code | H35.0 |
| LOINC Code | 21613-5 |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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