Test Price
2,800 AEDโ Home Collection Available
PAX6 Gene Aniridia Next-Generation Sequencing (NGS) Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Clinical Accuracy: 99.9% diagnostic sensitivity via ISO-accredited next-generation sequencing covering full PAX6 coding region and splice sites.
- Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM across all UAE emirates.
- Clinical Guidance: Post-test telephonic consultation with a consultant medical geneticist to interpret results and discuss inheritance risks.
- Insurance Verification: Direct billing confirmation via WhatsApp +971 54 548 8731 with participating UAE health insurers.
ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) ยท DHA Facility License 1143 ยท All testing performed at DNA Labs UAE, Dubai Healthcare City.
Test Overview & Methodology
The PAX6 gene aniridia NGS test precisely identifies pathogenic variants causing congenital aniridia, a rare autosomal dominant eye disorder characterised by partial or complete absence of the iris. Performed using next-generation sequencing at our DHA-licensed laboratory in Dubai Healthcare City, this test provides comprehensive coverage of the PAX6 coding region, intron-exon boundaries, and untranslated regions. Results support definitive diagnosis, genetic counselling, and informed reproductive planning for affected individuals and at-risk family members.
| Feature | DNA Labs UAE PAX6 NGS Test | Standard Single-Gene Sanger Sequencing |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity; full coding region + splice site coverage including deep intronic variants | Limited to known familial mutations; may miss novel or mosaic variants |
| Methodology | Next-generation sequencing with paired-end reads and advanced bioinformatic variant calling | Sanger chain-termination sequencing; low throughput for multi-exon genes |
| Turnaround Time | 3โ4 weeks | 6โ8 weeks |
| Variant Detection Rate | >95% for PAX6-related aniridia; detects single nucleotide variants, insertions, deletions, and splice-site alterations | ~70% for known mutations only; does not detect large rearrangements |
Physician Insight & Safety Protocols
โPAX6 genetic testing provides a molecular diagnosis in the majority of aniridia cases, but results must always be interpreted alongside a comprehensive ophthalmic evaluation including slit-lamp examination and intraocular pressure measurement. A negative sequencing result does not exclude the diagnosis, as deep intronic or regulatory region variants may remain undetected. Genetic counselling is essential to discuss autosomal dominant inheritance patterns, variable expressivity, and implications for first-degree relatives. All testing at DNA Labs UAE is performed under strict DHA oversight with fully informed consent.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics ยท DHA: 9294403
Medication Advisory
Do not discontinue, adjust, or initiate any prescribed ophthalmic or systemic medication without direct consultation with your treating physician. Genetic test results do not replace clinical judgement or ongoing medical management.
Exclusion Criteria & Emergency Red Flags
- Active systemic infection, uncontrolled bleeding disorder, or febrile illness โ defer blood collection until resolved.
- Patient is a minor (under 18 years) โ parental or guardian written consent is mandatory under UAE Federal Law.
- Seek immediate emergency care for sudden vision loss, acute eye pain, ocular trauma, or suspected retinal detachment; do not delay treatment awaiting genetic results.
- Inability to provide a three-generation family pedigree or prior clinical records may limit variant interpretation.
Patient FAQ & Clinical Guidance
1. What is the PAX6 gene aniridia NGS test and who should consider it in the UAE?
This genetic test uses next-generation sequencing to identify pathogenic variants in the PAX6 gene that cause congenital aniridia. It is recommended for individuals with clinical features of aniridia (partial or complete iris hypoplasia, nystagmus, foveal hypoplasia, glaucoma, or corneal opacification), those with a documented family history of aniridia, and couples planning a pregnancy who wish to understand their recurrence risk. Results are correlated with a full ophthalmic examination and interpreted by a consultant medical geneticist.
2. How accurate is the PAX6 genetic test and what methodology ensures precision?
The test delivers 99.9% diagnostic sensitivity by sequencing the entire PAX6 coding region, all exon-intron boundaries, and conserved non-coding elements using paired-end next-generation sequencing. Advanced bioinformatic pipelines with population frequency filtering, in silico pathogenicity prediction, and manual variant review eliminate false positives and detect mosaic or low-level variants that Sanger sequencing would miss.
3. What is the turnaround time and what sample types are accepted?
Turnaround time is 3โ4 weeks from sample receipt. Accepted sample types include peripheral whole blood collected in EDTA tubes, extracted genomic DNA (minimum 1 ยตg), or dried blood spots on FTA cards. For patients preferring home collection, DNA Labs UAE offers VIP mobile phlebotomy with temperature-controlled cold-chain transport daily from 8 AM to 11 PM, staffed by DHA-licensed phlebotomists.
4. Does health insurance cover the PAX6 NGS genetic test in the UAE?
Coverage varies by insurer and policy. DNA Labs UAE provides direct billing verification via WhatsApp +971 54 548 8731 for participating UAE health insurance plans. Patients are advised to contact their insurance provider to confirm genetic testing benefits, pre-authorisation requirements, and any applicable co-payments or deductibles.
UAE Regulatory & Data Privacy Adherence
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic and personal data are encrypted, access-controlled, and processed with explicit patient consent. Data are never shared with third parties without a lawful basis or written authorisation.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Electronic health records and genomic data are stored on UAE-based secure servers with full audit trail logging and breach notification protocols.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Genetic testing is performed under the direct supervision of a licensed physician. Informed consent documents detail the scope, limitations, and potential implications of testing, and patients retain the right to withdraw consent at any point before sample processing.
- ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139): Quality management system reviewed annually for compliance with international standards in laboratory operations and data handling.
Clinical & Logistical Metadata
| Test Name | PAX6 Gene Aniridia Next-Generation Sequencing (NGS) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 weeks from sample receipt |
| Sample Type / Matrix | Peripheral whole blood (EDTA), extracted genomic DNA, or dried blood spot (FTA card). VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily 8 AM โ 11 PM. |
| Methodology Used | Next-generation sequencing (NGS) with paired-end reads, targeted capture enrichment, and bioinformatic variant annotation against GRCh38/hg38. |
| ICD-10-CM Code | Q13.1 (Aniridia), H54.0 (Blindness both eyes), H54.1 (Blindness one eye) |
| LOINC Code | 21636-6 (PAX6 gene mutation analysis in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 ยท Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE ยท DNA Labs UAE |
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