Test Price
2,800 AED✅ Home Collection Available
POC1B Gene Cone-Rod Dystrophy Type 20 Genetic Test in UAE | 2,800 AED | DHA-Licensed Molecular Diagnosis
Executive Summary & Core Metrics
Genetic confirmation of cone-rod dystrophy type 20 using high-coverage NGS analysis, supported by ISO-certified logistics and DHA-licensed post-test clinical guidance.
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test result interpretation by a Consultant Medical Geneticist.
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The POC1B gene test detects pathogenic variants causing cone-rod dystrophy type 20, an inherited retinal disorder characterised by progressive loss of cone and rod photoreceptors. This NGS-based assay helps confirm clinical diagnosis, guide ophthalmologic management, and inform family planning decisions.
| Feature | Our Test (NGS) | Closest Alternative (Panel/Sanger) |
|---|---|---|
| Precision | Single-gene deep coverage, including intronic boundaries | May miss non-coding variants or require reflex testing |
| Method | Next Generation Sequencing with full bioinformatics analysis | Targeted panels with limited POC1B coverage |
| Turnaround | 3 to 4 weeks | Often 6–8 weeks due to batching |
Physician Insight & Safety Protocols
"This single-gene NGS assay provides high-confidence detection of POC1B pathogenic variants. Clinical correlation with electroretinography and family pedigree analysis remains essential for accurate prognosis. A multidisciplinary approach combining ophthalmology and medical genetics ensures the most reliable interpretation for patient management."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Genetic Counseling Requirement
Pre- and post-test genetic counselling is strongly recommended for all individuals undergoing POC1B genetic testing. A positive result does not always predict exact severity or progression of vision loss. Results must be interpreted in the context of family history and clinical findings. Informed consent is mandatory before sample collection.
Exclusion Criteria & Emergency Red Flags
- Patients with complex chromosomal rearrangements may require extended cytogenetic workup; this test alone may be insufficient.
- Not intended for standalone prenatal diagnosis without dedicated genetic counselling and informed consent.
- Seek immediate ophthalmic emergency care if you experience sudden vision loss, new-onset flashes or floaters, or severe eye pain.
If you encounter any of these symptoms, contact your ophthalmologist or visit the nearest emergency department without delay.
Patient FAQ & Clinical Guidance
1. What does the POC1B genetic test diagnose?
This test identifies mutations in the POC1B gene linked to cone-rod dystrophy type 20, causing progressive vision loss. It aids in confirming a clinical suspicion of the disease, assessing inheritance pattern, and guiding personalised surveillance. A genetic counsellor will explain your result and its implications for family members.
2. How is the DNA sample collected for the test?
A simple blood draw or FTA card sample is collected by a certified phlebotomist at your home or preferred location. Our VIP mobile service ensures a painless, sterile collection under cold-chain conditions between 8 AM and 11 PM daily. No special fasting is required. The sample is immediately transferred to our ISO-certified laboratory for processing.
3. When will I receive my results and what support is provided?
Results are available in 3 to 4 weeks, followed by a telephonic clinical consultation with our Consultant Medical Geneticist. The report includes variant interpretation according to ACMG guidelines. We also coordinate with your treating ophthalmologist to integrate the findings into your care plan.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License Number 1143. All genetic data is handled in compliance 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 testing safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | POC1B Gene Cone-Rod Dystrophy Type 20 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral whole blood or FTA card specimen |
| Methodology Used | Next Generation Sequencing (NGS) – full gene coverage including intronic boundaries |
| ICD-10-CM Code | H35.54 |
| LOINC Code | 94754-3 |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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ISMS 27001:2022
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All reports reviewed by DHA-Certified physicians