Test Price
2,800 AED✅ Home Collection Available
EFEMP1 Gene Doyne Honeycomb Retinal Dystrophy Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
The EFEMP1 gene test identifies pathogenic variants causing Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese), an autosomal dominant retinal dystrophy leading to progressive vision loss. Using next-generation sequencing (NGS), this test analyzes the entire coding region with 99.9% analytical sensitivity, confirming diagnosis and guiding genetic counselling.
Test Overview & Methodology
The EFEMP1 gene test uses next-generation sequencing (NGS) to detect pathogenic mutations in the EFEMP1 gene responsible for Doyne Honeycomb Retinal Dystrophy. This comprehensive analysis covers all exons and splice sites, enabling identification of both known and novel variants. The test offers superior coverage compared to Sanger sequencing limited to a single known variant.
| Parameter | Our Test | Closest Alternative (Sanger Single-Site) |
|---|---|---|
| Methodology | NGS (Full Gene Sequencing) | Sanger Sequencing of Known Variant Only |
| Analytical Sensitivity | 99.9% | ~99% for targeted variant |
| Turnaround Time | 3–4 Weeks | 2–3 Weeks |
| Coverage | All exons & splice sites | Single known variant |
| Price | 2,800 AED | 1,800 AED |
| Clinical Utility | Identifies novel mutations, full diagnosis | Limited to previously identified familial variant |
Physician Insight & Safety Protocols
“Genetic testing for EFEMP1 is a powerful tool, but it must be interpreted in the wider clinical picture; an isolated variant of uncertain significance does not equate to a definitive diagnosis. I urge all patients to correlate genetic findings with comprehensive ophthalmic examinations. Your vision is precious—trust the guidance of your ophthalmologist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠️ Important: Do not discontinue prescribed medication without consulting your doctor.
Exclusion Criteria & Safety Advisory
- Minors (<18 years) require legal guardian consent per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Individuals unable to provide informed consent or participate in genetic counselling are not eligible.
- This test is not a substitute for emergency eye care.
- Emergency Red Flags: Sudden vision loss, acute eye pain, or photopsia—seek immediate ophthalmic assessment.
Patient FAQ & Clinical Guidance
1. What is Doyne Honeycomb Retinal Dystrophy and how does EFEMP1 testing help?
EFEMP1 genetic testing detects mutations in the EFEMP1 gene responsible for Doyne Honeycomb Retinal Dystrophy, enabling accurate diagnosis and guiding family screening. It helps distinguish this condition from other retinal dystrophies and informs prognosis.
2. How is the test performed and what sample is required?
A simple peripheral whole blood sample (EDTA tube) or saliva is collected via our VIP mobile phlebotomy service. The sample is transported under temperature-controlled cold chain to our ISO-accredited laboratory where DNA is extracted and analyzed by next-generation sequencing.
3. What do the results mean and how are they interpreted?
Results indicate the presence or absence of pathogenic EFEMP1 variants. A positive result confirms the diagnosis of Doyne Honeycomb Retinal Dystrophy and enables risk assessment for family members. Results should always be interpreted by a qualified genetic counselor or ophthalmologist in the context of clinical findings and family history.
UAE Regulatory & Data Privacy Adherence
This clinical service fully complies 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. All genetic testing procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability for patient consent and safety. Our laboratory operates under ISO 9001:2015 certification and is licensed by the Dubai Health Authority (Facility ID: 1143).
Clinical & Logistical Metadata
| Test Name | EFEMP1 Gene Doyne Honeycomb Retinal Dystrophy Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or saliva |
| Methodology Used | Next-Generation Sequencing (NGS) of full coding region and splice sites |
| ICD-10-CM Code | H35.54 |
| LOINC Code | 81273-5 |
| DHA Facility License & Laboratory Address | DHA License No: 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE Corporate Lab: DNA Labs UAE |
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