Test Price
3,200 AED✅ Home Collection Available
Next‑Generation Sequencing (NGS) for Optic Atrophy Panel in UAE | 3200 AED | Certified Genetic Diagnostics
Executive Summary & Core Metrics
Clinical Assurance Overview
- Diagnostic Accuracy: 99.9% analytical sensitivity using ISO 9001:2015 certified NGS with orthogonal Sanger confirmation.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM.
- Post-Test Guidance: Complimentary telephonic clinical correlation with a DHA‑licensed Consultant Medical Geneticist.
- Insurance Verification: Direct billing confirmation via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The Next‑Generation Sequencing (NGS) Optic Atrophy Panel empowers ophthalmologists, medical geneticists, and neurologists to confirm a molecular diagnosis, guide prognosis, and support reproductive risk assessment for hereditary vision loss. This comprehensive panel interrogates all exons and flanking splice sites of genes implicated in optic atrophy, including but not limited to OPA1, OPA3, MFN2, WFS1, and MT‑ND4.
Specimen Collection: 10 mL whole blood in 2 Lavender‑Top (EDTA) tubes. Ship refrigerated at 2–8°C; do not freeze. A duly completed Whole Exome Sequencing Consent Form (Form 37) is mandatory. Samples must reach the laboratory by 9:00 AM for same-day processing initiation.
| Test Feature | Our NGS Optic Atrophy Panel | Conventional Single‑Gene Analysis |
|---|---|---|
| Methodology | NGS with Sanger validation, covering all exons and flanking splice sites | Sanger sequencing of one gene at a time |
| Gene Coverage | Comprehensive panel (OPA1, OPA3, MFN2, WFS1, MT‑ND4, and 35+ additional genes) | Limited to a single gene, often requiring sequential testing |
| Turnaround Time | 45 calendar days | 8–12 weeks per gene |
| Diagnostic Yield | ~70% in hereditary optic atrophy | ~20–40% depending on phenotype |
| Price | 3200 AED | ~1500–2000 AED per gene (cumulative cost often higher) |
Physician Insight & Safety Protocols
“As a DHA‑licensed Consultant Medical Geneticist, I recognize the profound uncertainty that accompanies progressive vision loss in families. This NGS panel offers a comprehensive molecular roadmap for hereditary optic atrophy, enabling precise diagnosis and informed family planning. Crucially, genetic results must always be interpreted alongside a complete ophthalmologic examination, three‑generation pedigree, and tailored genetic counseling. Patients are advised never to discontinue prescribed therapies without direct consultation with their treating specialist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Safety Advisory
⚠ Important Precautions
Do not halt any prescribed eye drops (e.g., intraocular pressure‑lowering agents) or systemic medications without explicit direction from your attending physician. Abrupt cessation may precipitate irreversible optic nerve damage or systemic complications. Always consult your specialist before making changes to your treatment regimen.
Exclusion Criteria & Emergency Indicators
- Sample rejection criteria: Hemolyzed blood, unlabeled tube, volume less than 2.5 mL, specimen refrigerated beyond 48 hours, missing signed consent (Form 37).
- Seek immediate medical attention for: Sudden total vision loss in one or both eyes, severe ocular pain accompanied by nausea, new‑onset diplopia or facial numbness, explosive headache with visual disturbance.
Patient FAQ & Clinical Guidance
1. What genetic conditions does this NGS optic atrophy panel detect?
This panel identifies pathogenic variants in over 40 genes linked to hereditary optic atrophy, including Leber’s hereditary optic neuropathy (LHON), autosomal dominant optic atrophy (OPA1), and Wolfram syndrome. It delivers a molecular diagnosis in up to 70% of inherited vision loss cases.
2. Is this test suitable for paediatric patients, and what consent is required?
Yes, the test may be performed on children when supervised by a paediatric ophthalmologist or medical geneticist. In the UAE, a parent or legal guardian must sign the mandatory Whole Exome Sequencing Consent Form (Form 37) in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
3. How will I receive my results, and is post‑test counselling included?
Your final report is delivered within 45 calendar days as an encrypted PDF via secure email plus a signed hard copy. A complimentary tele‑consultation with a DHA‑licensed Consultant Medical Geneticist is included to help you interpret the findings and plan next steps.
4. Can I proceed with home sample collection, and what preparation is needed?
Yes, our VIP Mobile Phlebotomy service is available daily from 8 AM to 11 PM. A licensed phlebotomist will collect 10 mL of whole blood in EDTA tubes at your home under cold‑chain conditions. No fasting is required; however, you must complete and sign Form 37 prior to collection.
UAE Regulatory & Data Privacy Adherence
Legal & Compliance Framework
- All genetic testing is conducted under the scope of DHA Facility License No. 1143.
- Patient genetic data is safeguarded in 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.
- Informed consent and clinical liability are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Facility certified under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | Next‑Generation Sequencing (NGS) for Optic Atrophy Panel |
| Price (AED) | 3200 AED |
| Turnaround Time | 45 calendar days |
| Sample Type / Matrix | Peripheral venous whole blood – 10 mL in EDTA tubes (minimum 5 mL). VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily 8 AM–11 PM. |
| Methodology Used | Next‑Generation Sequencing (NGS) with orthogonal Sanger confirmation, covering all exons and flanking splice sites. |
| ICD-10-CM Code | H47.20, H47.2 |
| LOINC Code | 82319-1 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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