Test Price
2,800 AED✅ Home Collection Available
PITX3 Gene Anterior Segment Mesenchymal Dysgenesis Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 certified NGS processing, ensuring definitive variant detection for the PITX3 gene across the full coding region and splice sites.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM, with ISO-certified transport and pediatric-trained phlebotomists for patient comfort.
Clinical Guidance: Post-test telephonic interpretation by a DHA-licensed Consultant Medical Geneticist (DHA ID: 9294403) to translate molecular findings into actionable ophthalmic and genetic counselling plans.
Insurance: Direct billing verification via WhatsApp +971 54 548 8731 prior to sample collection to eliminate balance billing surprises.
Price: 2800 AED inclusive of GST, genetic counselling, and courier logistics within the UAE.
Test Overview & Methodology
The PITX3 gene NGS test comprehensively sequences the entire coding region, intron-exon boundaries, and untranslated regions of PITX3 to identify pathogenic and likely pathogenic variants linked to anterior segment mesenchymal dysgenesis, congenital cataracts, and Axenfeld-Rieger spectrum anomalies. This molecular assay provides definitive genetic confirmation essential for early ophthalmic intervention, surgical timing, and family planning risk assessment.
Our laboratory employs Illumina-based next-generation sequencing with >200× mean coverage depth, enabling simultaneous detection of single-nucleotide variants, small insertions/deletions, and copy number variations. All variant calls are confirmed by Sanger sequencing and classified according to ACMG/AMP 2015 guidelines.
| Feature | Our PITX3 NGS Test | Closest Alternative (Panel / Sanger) |
|---|---|---|
| Precision | >200× mean coverage, full gene sequencing with CNV detection | Targeted exons only, no CNV analysis |
| Methodology | NGS (Next-Generation Sequencing) – ISO 9001:2015 accredited | Sanger sequencing, low throughput |
| Turnaround Time | 3 to 4 weeks | 4 to 6 weeks |
Physician Insight & Safety Protocols
"The PITX3 gene plays a critical role in anterior segment development of the eye. Identifying a pathogenic variant through comprehensive NGS sequencing enables precise diagnosis and guides personalised management strategies for congenital cataracts and anterior segment dysgenesis. I strongly recommend correlating genetic findings with a detailed ophthalmologic examination and involving both a paediatric ophthalmologist and a clinical geneticist in the care pathway to ensure optimal visual outcomes and accurate recurrence risk counselling."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory & Clinical Precaution
⚠️ Medication Advisory
Do not discontinue, alter, or initiate any prescribed eye drops, systemic medications, or surgical plans based solely on genetic results. This test provides diagnostic clarity for long-term management but does not override acute treatment protocols from your managing ophthalmologist. Always consult your physician before making therapeutic changes.
Exclusion Criteria & Emergency Red Flags
Not for: Patients with acute ocular trauma, active intraocular infection, or recent intraocular surgery (within 4 weeks) as the primary indication. This test is not a replacement for urgent slit-lamp examination or emergency ophthalmology consultation.
Seek immediate emergency care if you experience: Sudden total vision loss, severe eye pain, intense photophobia, or a curtain-like shadow across your visual field. The PITX3 result does not evaluate acute retinal or optic nerve emergencies; call 998 or visit the nearest emergency department.
Patient FAQ & Clinical Guidance
1. What does the PITX3 gene test detect?
The PITX3 NGS test identifies pathogenic mutations in the PITX3 gene that cause anterior segment mesenchymal dysgenesis, congenital cataracts, and Axenfeld-Rieger spectrum anomalies. It provides a definitive molecular diagnosis that directly influences surgical timing, vision rehabilitation strategies, and recurrence risk assessment for family planning.
2. How is the sample collected and what preparation is needed?
A standard peripheral whole blood sample (2-3 mL in EDTA) is collected by a trained paediatric phlebotomist during VIP home collection. No fasting, special diet, or medication withholding is required. A pre-test genetic counselling session documents your family pedigree and clinical history to maximise result accuracy. Home collection is available daily from 8 AM to 11 PM.
3. Will my health insurance cover this test?
Most UAE health insurance plans cover NGS-based genetic testing when pre-authorised with a referral from a DHA-licensed paediatrician or ophthalmologist. Our insurance verification team confirms coverage directly via WhatsApp at +971 54 548 8731 before sample collection, ensuring no unexpected out-of-pocket expenses.
4. How long does it take to receive results?
The standard turnaround time is 3 to 4 weeks from sample receipt at our Dubai Healthcare City laboratory. This timeline includes DNA extraction, library preparation, NGS sequencing, bioinformatic analysis, variant classification, and clinical report generation. Urgent requests may be accommodated on a case-by-case basis.
5. What happens after the test results are ready?
Our Consultant Medical Geneticist provides a telephonic post-test interpretation session to explain the findings, discuss implications for vision and family planning, and coordinate referrals to paediatric ophthalmology and genetic counselling services. A comprehensive written report is also delivered electronically and by courier.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License Number 1143 and strictly adheres to UAE federal data protection and healthcare privacy regulations. All genetic data is processed, stored, and transmitted 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 procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genetic information is encrypted, access-controlled, and never shared with third parties without explicit written consent.
Clinical & Logistical Metadata
| Test Name | PITX3 Gene Anterior Segment Mesenchymal Dysgenesis Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral whole blood (2-3 mL in EDTA) |
| Methodology Used | Next-Generation Sequencing (NGS) with CNV detection, ISO 9001:2015 accredited |
| ICD-10-CM Code | Q15.0, Q12.0, Q13.81 |
| LOINC Code | 21617-1 |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians