Test Price
2,800 AED✅ Home Collection Available
PLA2G5 Gene Familial Benign Fleck Retina Genetic Test in UAE | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
Clinical Performance & Service Highlights
- Diagnostic Sensitivity: 99.9% for pathogenic variants in the PLA2G5 gene via ISO-accredited next-generation sequencing (NGS) full-gene coverage.
- Premium Home Collection: VIP mobile phlebotomy with temperature-controlled cold-chain logistics, available daily from 8 AM to 11 PM across Dubai and the UAE.
- Post-Result Teleconsultation: A dedicated genetic counselor or consultant medical geneticist will interpret your report and discuss clinical implications.
- Direct Insurance Verification: WhatsApp +971 54 548 8731 for real-time coverage confirmation and cost estimates.
Test Overview & Methodology
The PLA2G5 gene next-generation sequencing test identifies pathogenic and likely pathogenic variants that cause familial benign fleck retina, an inherited retinal dystrophy with autosomal dominant transmission. This molecular analysis targets the complete coding region, splice sites, and selected deep intronic regions of the PLA2G5 gene, enabling definitive diagnosis for individuals presenting with yellow-white fleck lesions in the posterior pole and facilitating informed genetic counseling for at-risk family members.
Unlike standard ophthalmic imaging that reveals only structural changes, the NGS-based genotyping provides a molecular confirmation prior to symptom progression, allowing early surveillance and family planning. The test is performed at DNA Labs UAE, a DHA-licensed molecular genetics facility (License 1143) situated in Dubai Healthcare City.
| Feature | Our Test (NGS Full Gene Sequencing) | Closest Alternative (Sanger Sequencing of Selected Regions) |
|---|---|---|
| Methodology | Next‑Generation Sequencing (NGS) – complete PLA2G5 gene coverage including intronic boundaries | Sanger sequencing limited to predefined hotspot exons |
| Diagnostic Yield | >99% detection of known pathogenic variants, including deep intronic and regulatory region mutations | ~80% – may miss rare or novel mutations outside targeted segments |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Sample Options | Whole Blood, Extracted DNA, or One Drop Blood on FTA Card | Whole Blood only (higher volume required) |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics | DHA Registration ID: 9294403) states: “Undergoing a genetic test for an inherited retinal condition can be emotionally challenging, yet the clarity it provides is invaluable. A definitive molecular diagnosis of familial benign fleck retina empowers you and your ophthalmologist to plan long-term surveillance, anticipate visual prognosis, and offer accurate recurrence risk counseling to your family. I encourage all patients to discuss their results in the context of a complete ophthalmic examination and family pedigree analysis.”
Advisory: Medication and Clinical Caution
Do not discontinue, alter, or initiate any prescribed ocular or systemic medication based on genetic test results without explicit guidance from your treating physician. The genetic report is a diagnostic adjunct and does not replace clinical judgment or medication management by your healthcare provider.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients who have received an allogeneic blood transfusion within the last two weeks, or who have undergone hematopoietic stem cell transplantation, should not provide blood for germline genetic testing. In such cases, an alternative sample type (e.g., buccal swab) may be arranged upon consultation.
- Exclusion: Inability to provide valid informed consent for genetic analysis, including minors without a legally authorized representative, precludes testing until consent requirements are satisfied.
- Red Flag: Sudden vision loss, acute eye pain, flashing lights, or a curtain-like visual field defect constitute medical emergencies requiring immediate ophthalmologic evaluation. This genetic test is not a substitute for emergency care.
Patient FAQ & Clinical Guidance
1. What is the PLA2G5 gene test and why is it recommended?
The PLA2G5 genetic test is an advanced DNA analysis that detects pathogenic variants responsible for familial benign fleck retina.
It is recommended for individuals with a family history of fleck retina or symptoms such as declining central vision, as it confirms the genetic diagnosis with high accuracy and guides follow-up strategies, including genetic counseling for at-risk relatives.
2. How does NGS testing for PLA2G5 differ from standard eye examinations?
NGS technology provides a comprehensive genetic analysis of the PLA2G5 gene with 99.9% sensitivity, whereas standard eye exams reveal only structural changes.
Conventional tests such as retinal imaging or visual field testing show the physical manifestations of disease, while our test identifies the underlying pathogenic variant before irreversible damage occurs, enabling early intervention and precise family planning.
3. How should I prepare for the PLA2G5 NGS blood test?
No fasting or medication adjustments are required; you may proceed with your normal daily routine.
The test requires a simple blood draw (or a dried blood spot on an FTA card). A certified phlebotomist from DNA Labs UAE can visit your home, office, or hotel at a scheduled time with full cold-chain compliance. A pre-test genetic counseling session will be arranged to document your family pedigree and address any questions.
UAE Regulatory & Data Privacy Adherence
Data Protection & Legal Compliance Framework
All genetic testing and data handling procedures at DNA Labs UAE strictly comply 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. Clinical safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
Genetic data is encrypted at rest and in transit, stored on secure servers within the UAE, and accessible only to authorized clinical personnel. Results are released exclusively to the ordering physician or the patient following verified identity confirmation.
Laboratory accreditation: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). DHA Facility License No. 1143.
Contact Support: +971 54 548 8731 (WhatsApp & Phone)
Clinical & Logistical Metadata
| Test Name | PLA2G5 Gene Familial Benign Fleck Retina Genetic Test (NGS Full Gene Sequencing) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next‑Generation Sequencing (NGS) – Whole Gene Coverage |
| ICD-10-CM Code | H35.59 |
| LOINC Code | 82326-5 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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