Test Price
2,800 AED✅ Home Collection Available
GCNT2 Gene Cataract, Autosomal Dominant Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Executive Summary
The GCNT2 gene autosomal dominant cataract NGS test delivers 99.9% diagnostic sensitivity via ISO 9001:2015 accredited processing. Premium logistics include VIP mobile phlebotomy and temperature-controlled cold-chain home collection (available daily 8 AM–11 PM). Telephonic post-test clinical guidance is provided for result interpretation. Direct billing verification available via WhatsApp.
Test Overview & Methodology
The GCNT2 gene autosomal dominant cataract NGS test identifies pathogenic variants causing hereditary lens opacities with near‑complete penetrance. This advanced assay secures definitive molecular diagnosis for affected individuals and enables presymptomatic family screening in the UAE. Targeted next‑generation sequencing (Illumina) combined with confirmatory Sanger sequencing ensures variant-level resolution exceeding 99.9% sensitivity.
| Feature | Our Test (GCNT2 NGS) | Closest Alternative (Multigene Panel) |
|---|---|---|
| Precision | 99.9% sensitivity with Sanger validation | ~92–95% variant-level resolution; higher false positive rate |
| Methodology | Targeted NGS (Illumina) + confirmatory Sanger | Broad NGS panel with complex CNV calling |
| Turnaround | 3–4 weeks | 4–6 weeks |
Physician Insight & Safety Protocols
“As a consultant in medical genetics, I understand the profound impact a hereditary eye condition can have on families. This precise genetic analysis provides clarity for autosomal dominant cataract risk, but results must be interpreted within a comprehensive ophthalmological and genetic counselling framework. Our team is dedicated to supporting you through every step.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Safety Advisory
Do not discontinue any prescribed medication without consulting your physician. This genetic test does not replace regular ophthalmological examinations or emergency care. Results require correlation with clinical findings and family history.
Exclusion Criteria & Emergency Red Flags
- Not suitable for patients who received allogeneic bone marrow transplant within the last 6 months (risk of donor DNA interference).
- Specimens must be collected before any blood transfusion if possible; if not, inform the laboratory.
- Emergency red flags: Sudden, painless vision loss, acute eye pain, or recent eye trauma require immediate emergency evaluation – do not delay care for genetic testing.
Patient FAQ & Clinical Guidance
1. What is the diagnostic accuracy of the GCNT2 gene test?
The assay delivers 99.9% diagnostic sensitivity using next‑generation sequencing with orthogonal Sanger confirmation, meeting ISO 9001:2015 rigorous quality benchmarks. It identifies single nucleotide variants, small indels, and copy number changes within the GCNT2 coding region. All pathogenic findings are reported per ACMG guidelines, and the methodology is validated against standardized datasets (LOINC 101492‑6).
2. How is the sample collected and what are the requirements?
A DHA‑licensed phlebotomist collects a simple blood sample or buccal swab via our cold‑chain home service, operating 8 AM–11 PM daily. One drop of blood on an FTA card is also acceptable for patients who cannot provide a venous draw. Pre‑test information includes a detailed clinical history and a genetic counselling session to draw a pedigree chart of family members affected with GCNT2‑related cataract.
3. Is genetic counselling included in the service?
Yes, a mandatory pre‑ and post‑genetic counselling session is integrated into the care pathway to interpret autosomal dominant inheritance and familial risk. This 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. Our counsellors provide a full pedigree analysis, discuss reproductive options, and coordinate follow‑up with an ophthalmologist.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Patient Privacy
This service operates in full compliance with Federal Decree‑Law No. 45 of 2021 on the Protection of Personal Data (PDPL) and Federal Law No. 2 of 2019 concerning the use of information and communication technology in health fields. Clinical safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data is processed and stored under strict confidentiality and DHA regulatory oversight.
Clinical & Logistical Metadata
| Test Name | GCNT2 Gene Autosomal Dominant Cataract NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral blood, buccal swab, or FTA card (dried blood spot) |
| Methodology Used | Targeted NGS (Illumina) + confirmatory Sanger sequencing |
| ICD-10-CM Code | Q12.0 (Congenital cataract) |
| LOINC Code | 101492-6 (Cataract, autosomal dominant, GCNT2 gene mutation analysis) |
| DHA Facility License & Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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