Test Price
3,200 AED✅ Home Collection Available
Next-Generation Sequencing (NGS) Comprehensive Panel for Leber Congenital Amaurosis (LCA) in UAE | 3,200 AED | DHA-Licensed Genetic Diagnostic
Executive Summary & Core Metrics
- Diagnostic Accuracy: >99.9% analytic sensitivity and specificity achieved through ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) accredited workflows with confirmatory Sanger sequencing.
- Sample Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM across all UAE emirates.
- Post-Test Support: Complimentary telephonic consultation with a consultant medical geneticist for result interpretation and family risk assessment.
- Insurance & Billing: Direct insurance verification and billing support via WhatsApp +971 54 548 8731 prior to sample collection.
Test Overview & Methodology
Leber Congenital Amaurosis (LCA) is a severe early-onset inherited retinal dystrophy that manifests in infancy, leading to profound visual impairment or blindness. This targeted NGS panel interrogates all 27+ established LCA-associated genes—including GUCY2D, RPE65, CEP290, and CRB1—with comprehensive coverage of coding exons, flanking intronic regions, and known deep intronic hotspots. Every identified variant is independently confirmed via bidirectional Sanger sequencing to eliminate false-positive calls, enabling precise molecular diagnosis for gene therapy eligibility assessment and reproductive counseling.
The panel is designed to detect single-nucleotide variants, small insertions and deletions, and copy-number variations across all clinically validated LCA genes. Results are interpreted according to current ACMG guidelines, and variants of uncertain significance are reviewed by a molecular genetics board before final reporting.
| Feature | DNA Labs UAE NGS LCA Panel | Alternative Single-Gene / Exome Approach |
|---|---|---|
| Methodology | Capture-based NGS + Sanger confirmation for all reported variants | Single-gene sequencing or clinical exome without orthogonal validation |
| Gene Coverage | All 27+ known LCA genes including deep intronic and promoter regions | Limited to 1–2 genes; may miss novel or deep intronic variants |
| Turnaround Time | 45 working days (expedited option available on request) | 60–90 working days, often lacking Sanger verification |
| Price | 3,200 AED | Often exceeds 3,500 AED for comparable coverage |
| Pre-Test Consent | Whole Exome Sequencing Consent Form (Form 37) mandatory with genetic counseling | Variable; may lack structured genetic counseling support |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specializing in inherited retinal disorders, I recognize the diagnostic urgency and emotional strain that families face when a child is diagnosed with severe early-onset visual impairment. This NGS panel delivers the molecular resolution required to guide gene-specific therapy decisions—such as voretigene neparvovec eligibility for RPE65-associated disease—and to inform reproductive planning through precise carrier status determination. I strongly advise that all results be reviewed in conjunction with a full clinical evaluation, family history, and post-test genetic counseling to ensure accurate interpretation and appropriate medical follow-up.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory Guidance for Referring Physicians
Patients undergoing this genetic evaluation should continue all prescribed ophthalmic medications, including topical therapies and systemic agents, unless explicitly instructed otherwise by the treating ophthalmologist. Abrupt discontinuation of therapy may compromise residual visual function and delay timely intervention. All clinical decisions regarding gene therapy, clinical trial enrollment, or surgical interventions must be made by the managing physician in coordination with a certified genetic counselor and a pediatric retinal specialist.
Exclusion Criteria & Emergency Indicators
Exclusion Criteria
- Acute systemic infection or severe anemia requiring medical stabilization prior to phlebotomy.
- Inability to obtain legally valid informed consent from a parent or legal guardian for minor patients, in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Prenatal testing without prior multidisciplinary genetic counseling and institutional ethics board approval.
- Whole blood sample that has been frozen or exposed to temperature extremes; only refrigerated transport at 2–8°C is accepted.
Emergency Red Flags
- Sudden worsening of vision, acute eye pain, or loss of light perception—seek emergency ophthalmic assessment immediately.
- New onset of flashes, floaters, or curtain-like visual field loss suggestive of retinal detachment.
- Severe headache accompanied by visual changes in a child with known LCA, warranting urgent neurologic and ophthalmic evaluation.
These criteria are established to protect patient safety and comply with UAE medical liability regulations.
Patient FAQ & Clinical Guidance
1. What is the accuracy of the NGS LCA panel for identifying the underlying genetic cause?
Brief Answer: This panel delivers >99.9% analytic sensitivity and specificity. Every variant detected by NGS is independently confirmed by Sanger sequencing to eliminate false-positive results and ensure diagnostic reliability.
The combined capture-based NGS and bidirectional Sanger validation captures mutations across all coding exons, flanking intronic regions, and clinically relevant deep intronic hotspots. Variant interpretation follows current ACMG guidelines, and any finding classified as a variant of uncertain significance is reviewed by our molecular genetics board before the final report is issued.
2. What sample type is required and how should it be handled?
Brief Answer: Two lavender-top EDTA tubes containing 10 mL of whole blood (minimum 5 mL) must be shipped under refrigerated conditions at 2–8°C. The sample must never be frozen, and the signed Whole Exome Sequencing Consent Form (Form 37) must accompany the specimen.
Our VIP mobile phlebotomy team performs collection using cold-chain validated coolers, with immediate transport to our ISO-certified genomics laboratory. Freezing compromises high-molecular-weight DNA integrity and can lead to failed library preparation or incomplete coverage. The Form 37 consent is provided during booking and must be completed before sample collection proceeds.
3. How will I receive my report and access result interpretation support?
Brief Answer: The final report is delivered via encrypted PDF within 45 working days, followed by a complimentary 15-minute telephonic consultation with a consultant medical geneticist available in English and Arabic.
Our DHA-licensed genetics team explains the implications of pathogenic and likely-pathogenic variants, carrier status for family members, and eligibility for gene-directed therapies. Pre-collection insurance verification can be completed through WhatsApp at +971 54 548 8731 to confirm coverage and billing details.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in full compliance with the UAE legislative framework governing patient data protection and health information security. All genetic data generated through this NGS panel is processed and stored under the provisions of:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) — ensuring lawful collection, processing, and storage of personal and genetic data with explicit patient consent.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields — mandating secure electronic health information exchange, audit trails, and breach notification protocols.
All genetic reports are transmitted through encrypted channels, and access is restricted to authorized clinical personnel only. Patients retain the right to request data rectification, portability, and erasure in accordance with PDPL provisions. Our laboratory maintains ISO 9001:2015 certification and undergoes annual external audits to verify ongoing regulatory compliance.
Clinical & Logistical Metadata
| Test Name | Next-Generation Sequencing (NGS) Comprehensive Panel for Leber Congenital Amaurosis (LCA) |
| Price (AED) | 3,200 |
| Turnaround Time | 45 working days (expedited option available on request) |
| Sample Type / Matrix | Whole blood (lavender-top EDTA tubes, 5–10 mL); refrigerated cold-chain transport at 2–8°C; VIP mobile phlebotomy and home collection available daily from 8 AM to 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) with bidirectional Sanger confirmation of all reported variants |
| ICD-10-CM Code | H35.52 |
| LOINC Code | 101023-3 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians