Test Price
2,800 AED✅ Home Collection Available
CNGB3 Gene Achromatopsia Type 3 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Core Metrics
- Diagnostic Accuracy: >99.9% analytical sensitivity and specificity via ISO 9001:2015 certified NGS workflow.
- Home Collection: VIP mobile phlebotomy with temperature-controlled cold-chain transport, available daily 8 AM – 11 PM.
- Post-Test Support: Telephonic genetic counselling session to interpret results with a consultant clinical geneticist.
- Insurance: Direct verification via WhatsApp at +971 54 548 8731; major UAE insurers accepted.
Test Overview & Methodology
The CNGB3 Gene Achromatopsia Type 3 Genetic Test analyses the complete coding region of the CNGB3 gene using next‑generation sequencing (NGS) with copy number variation detection. This provides definitive molecular confirmation for patients with suspected complete or incomplete achromatopsia, guiding clinical management and genetic counselling.
| Feature | Our CNGB3 NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | >99.9% analytical sensitivity and specificity, complete gene coverage | ~98% sensitivity, may miss deep intronic or regulatory variants |
| Methodology | Next Generation Sequencing (NGS) with CNV detection | Capillary sequencing of selected exons only |
| Turnaround Time | 3–4 Weeks | 5–6 Weeks |
NGS is the gold standard for hereditary eye disease testing as per international genomic medicine guidelines.
Physician Insight & Safety Protocols
“A precise genetic diagnosis of achromatopsia type 3 through CNGB3 sequencing provides families with clarity and allows for appropriate low‑vision rehabilitation and genetic counselling. It is essential that results are interpreted alongside a complete ophthalmic examination and never in isolation.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory
⚠️ Important Guidance
This genetic test confirms the molecular diagnosis of achromatopsia but does not guide changes to any current vision therapy, low‑vision aids, or systemic medications. Continue all prescribed treatments and consult your ophthalmologist for adjustments. The test result is not a substitute for regular eye care.
Exclusion Criteria & Emergency Red Flags
- Exclusion: This test is indicated only for individuals with clinical signs of achromatopsia or a documented family history of CNGB3‑related disease. For minors (<18 years), mandatory pre‑test genetic counselling and parental consent are required per UAE Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Emergency Red Flags: Sudden severe visual loss, acute eye pain, or photophobia accompanied by headache or nausea require immediate ophthalmic evaluation and are not features of a stationary genetic condition.
All specimens processed at DNA Labs UAE, ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139), in full compliance with UAE data privacy standards.
Patient FAQ & Clinical Guidance
1. How accurate is the CNGB3 NGS test for diagnosing achromatopsia type 3?
The test achieves greater than 99.9% analytical sensitivity and specificity for all pathogenic variants in the CNGB3 gene, making it the most reliable molecular confirmation available.
2. What type of sample is required for this test?
A simple blood draw (EDTA whole blood), previously extracted DNA, or a single drop of blood dried on an FTA card is sufficient for high‑quality NGS analysis. Home collection is available for blood samples.
3. Is genetic counselling mandatory before taking the test?
Yes, a pre‑test genetic counselling session is strongly recommended to review family history, draw a pedigree chart, and discuss the implications of a positive result. For minors, it is mandatory.
4. How long does it take to get results?
The turnaround time is 3 to 4 weeks from sample receipt in the laboratory.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Legal Compliance
DNA Labs UAE operates under DHA Facility License No. 1143 and strictly adheres to the 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 data is encrypted, de‑identified, and processed solely for diagnostic purposes. Patient consent is obtained in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | CNGB3 Gene Achromatopsia Type 3 Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, Dried Blood Spot (FTA card) |
| Methodology Used | Next Generation Sequencing (NGS) with CNV detection |
| ICD-10-CM Code | H53.51 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | License 1143 – DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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