Test Price
3,200 AED✅ Home Collection Available
Next-Generation Sequencing (NGS) for Retinitis Pigmentosa (RP) – Comprehensive Genetic Panel
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited processing with Sanger confirmation.
Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
Clinical Guidance: Telephonic post-test clinical guidance and genetic counselling included for result interpretation.
Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Price: 3,200 AED inclusive of all laboratory and reporting charges.
Test Overview & Methodology
Next-Generation Sequencing for Retinitis Pigmentosa identifies pathogenic variants in over 80 genes linked to retinal degeneration, enabling precise molecular diagnosis and personalized clinical management. This test combines NGS with Sanger sequencing confirmation to achieve clinical-grade accuracy and diagnostic yield of 60–70%. The panel targets all known RP-associated genes including RHO, RPGR, PRPF31, USH2A, and EYS, providing comprehensive coverage for inherited retinal dystrophy evaluation.
The methodology involves genomic DNA extraction from peripheral whole blood, targeted capture library preparation, high-throughput sequencing on an Illumina platform, bioinformatic variant calling against GRCh38/hg38, and orthogonal confirmation of all clinically significant variants via Sanger sequencing. Variants are classified according to ACMG/AMP guidelines.
| Feature | NGS RP Panel | Conventional Sanger |
|---|---|---|
| Genes Analyzed | 80+ genes simultaneously | One gene at a time |
| Methodology | NGS + Sanger confirmation | Sanger sequencing only |
| Turnaround Time | 45 working days | 3–6 months for full panel |
| Diagnostic Yield | 60–70% | Variable, sequential |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics – DHA Registration ID: 9294403)
"Retinitis Pigmentosa represents a genetically heterogeneous group of inherited retinal dystrophies where early molecular diagnosis can profoundly alter clinical trajectories. NGS panel testing provides a comprehensive, time-efficient approach to identify the causative genetic variant, enabling targeted counselling, prognosis estimation, and assessment of eligibility for emerging gene-specific therapies. In my practice, this test forms the cornerstone of precision ophthalmogenetics in the UAE."
Important Safety Advisory
Do not discontinue any prescribed ophthalmic or systemic medication without consulting your treating physician. Genetic test results must always be correlated with clinical examination findings and family history. A positive genetic finding does not replace regular ophthalmological follow-up.
Patient Exclusion & Emergency Red Flags
- Exclusion Criteria: Blood transfusion within the last 3 months, active chemotherapy or immunosuppressive therapy, inability to provide informed consent via the approved consent form.
- Emergency Red Flags: Sudden or rapidly progressive vision loss, acute ocular pain, new-onset photopsia or floaters, flash-like visual disturbances – these require immediate emergency ophthalmological evaluation and are not managed by elective genetic testing alone.
Patient FAQ & Clinical Guidance
1. What is the turnaround time for the NGS Retinitis Pigmentosa test?
The complete analysis including sequencing, bioinformatics, variant classification, and Sanger confirmation is delivered within 45 working days. Each step from DNA extraction to final clinical report undergoes rigorous quality control to ensure definitive, actionable results.
2. How is the sample collected and what are the requirements?
Two lavender-top EDTA tubes of whole blood (10 mL total) are required. The sample must be refrigerated at 2–8°C immediately after collection and must never be frozen. A signed informed consent form for genetic testing must accompany the specimen. VIP mobile phlebotomy is available daily from 8 AM to 11 PM with temperature-controlled cold-chain transport.
3. Is this test covered by insurance in the UAE?
Most UAE health insurance plans provide coverage for NGS genetic testing for Retinitis Pigmentosa when deemed medically necessary by a specialist. Direct billing verification is available via WhatsApp at +971 54 548 8731. Our team coordinates with major insurers including DHA-compliant networks to minimize out-of-pocket expenses.
4. What clinical action follows a positive genetic finding?
A positive result enables precise genetic counselling for the patient and family members, assessment of recurrence risks, eligibility evaluation for gene therapy clinical trials, and tailored surveillance for associated systemic manifestations. All results are reviewed in a post-test telephonic consultation with our genetics team.
UAE Regulatory & Data Privacy Adherence
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic data is encrypted end-to-end and processed under strict data protection protocols ensuring patient confidentiality and consent-based data handling.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Digital health records, electronic test ordering, and telephonic clinical guidance comply fully with UAE federal health data standards.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Patient safety, informed consent (Form 37), and clinical governance procedures adhere to the federal medical liability framework.
- ISO 9001:2015 Certified Laboratory: Certified processes (Cert: INT/EGQ/2509DA/3139) ensuring quality management across pre-analytical, analytical, and post-analytical phases.
- DHA Facility License: 1143 – Licensed by the Dubai Health Authority for diagnostic genetic testing.
Clinical & Logistical Metadata
| Test Name | Next-Generation Sequencing (NGS) for Retinitis Pigmentosa (RP) – Comprehensive Genetic Panel |
| Price (AED) | 3,200 AED |
| Turnaround Time | 45 working days |
| Sample Type / Matrix | Peripheral whole blood – two lavender-top EDTA tubes (10 mL total). VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM. |
| Methodology Used | Targeted capture NGS on Illumina platform with Sanger sequencing confirmation of clinically significant variants. Variant interpretation per ACMG/AMP guidelines. |
| ICD-10-CM Code | H35.52 (Retinitis pigmentosa), H35.5 (Hereditary retinal dystrophy), Z13.71 (Encounter for screening for genetic anomalies) |
| LOINC Code | 95938-3 (Retinitis pigmentosa gene panel) |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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