Test Price
2,800 AED✅ Home Collection Available
PITX2 Gene Axenfeld‑Rieger Syndrome Type 1 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
✓ Diagnostic Yield: 99.9% analytical sensitivity via ISO 15189 & ISO 9001:2015 accredited next‑generation sequencing (NGS) of the full PITX2 coding region.
✓ Turnaround Time: Results delivered within 21–28 calendar days from sample receipt; expedited pathways available upon clinical justification.
✓ Collection Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection — available daily from 8 AM to 11 PM across Dubai and the Northern Emirates.
✓ Post‑Test Support: Complimentary telephonic genetic counselling by a DHA‑registered Consultant Medical Geneticist for result interpretation, family risk assessment, and multidisciplinary referral planning.
✓ Insurance & Billing: Direct billing verification via WhatsApp — +971 54 548 8731 (pre‑approval typically completed within minutes).
Test Overview & Methodology
This advanced amplicon‑based next‑generation sequencing (NGS) assay interrogates the entire coding region and conserved splice sites of the PITX2 gene to detect pathogenic and likely‑pathogenic variants responsible for Axenfeld‑Rieger syndrome type 1. The test supports definitive diagnosis, informs ocular and dental surveillance protocols, and enables cascade screening for at‑risk family members. Copy‑number variant (CNV) detection is integrated into the analysis pipeline to capture partial or whole‑gene deletions and duplications.
| Feature | Our Test — Amplicon‑Based NGS | Closest Alternative — Sanger Sequencing |
|---|---|---|
| Analytical Sensitivity | 99.9% with full gene coverage including intronic boundaries | ~98% limited to known mutation hotspots |
| Methodology Platform | NGS on Illumina® platform with integrated CNV analysis | Capillary electrophoresis — single‑exon interrogation |
| Turnaround Time | 21–28 calendar days | 28–42 calendar days |
| Pre‑Test Genetic Counselling | Included — pedigree chart, informed consent, and risk discussion | Often limited or non‑standardised |
Physician Insight & Safety Protocols
“As a DHA‑registered Consultant Medical Geneticist, I emphasise that while this NGS assay delivers exceptional diagnostic sensitivity for PITX2‑related Axenfeld‑Rieger syndrome type 1, clinical correlation with comprehensive ophthalmologic and dental evaluations remains essential for guiding long‑term management. We are committed to providing empathetic, whole‑family support throughout the testing journey — from pre‑test education to post‑result counselling and multidisciplinary referral coordination.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics — DHA Registration ID: 9294403
Advisory Notice
Medication & Clinical Management Advisory
A genetic test result alone should never replace ongoing clinical monitoring or justify discontinuation of any prescribed therapy. Always consult your treating physician before making changes to medications or interventions. If you experience sudden vision loss, severe eye pain, photophobia, or symptoms suggestive of acute glaucoma, seek emergency ophthalmologic evaluation immediately regardless of genetic findings.
Patient Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Recent blood transfusion (<2 weeks) may compromise DNA quality; inability to obtain legal guardian consent for minors; active acute illness requiring immediate medical stabilisation.
- Emergency Red Flags: Sudden vision loss, severe eye pain, photophobia, or acute glaucoma symptoms — these warrant immediate ophthalmologic evaluation irrespective of genetic results.
Patient FAQ & Clinical Guidance
1. What is the PITX2 gene test and how does it help diagnose Axenfeld‑Rieger syndrome type 1?
This NGS test sequences the complete coding region of the PITX2 gene to detect pathogenic mutations responsible for Axenfeld‑Rieger syndrome type 1. The results guide early ocular, dental, and cardiac surveillance, enable accurate family counselling, and support personalised management planning.
2. How long does it take to receive results and what is the total cost in Dubai?
Results are typically available within 21–28 calendar days from sample receipt. The total cost is 2800 AED, inclusive of pre‑test genetic counselling, the NGS analysis, and a detailed clinical report with variant interpretation and family risk recommendations.
3. Is home blood collection available for paediatric patients?
Yes. Our DHA‑licensed paediatric phlebotomy team provides hospital‑grade VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection daily from 8 AM to 11 PM, minimising distress for children and maximising convenience for families across Dubai and the Northern Emirates.
4. Will I receive genetic counselling after the test?
Absolutely. Every test includes a complimentary telephonic post‑result counselling session with a DHA‑registered Consultant Medical Geneticist. This session covers result interpretation, implications for at‑risk relatives, and coordinated referrals to ophthalmology, dentistry, and cardiology specialists as needed.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Governance: All genetic data handling, storage, and processing comply 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. Patient consent and clinical safety protocols adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Accreditation & Quality Management: ISO 9001:2015 — Cert. INT/EGQ/2509DA/3139. All laboratory processes follow DHA and MOHAP standards for genetic testing and molecular diagnostics.
Your genetic data is encrypted, access‑controlled, and never shared with third parties without explicit informed consent. You retain the right to access, rectify, and request deletion of your data in accordance with PDPL provisions.
Clinical & Logistical Metadata
| Test Name | PITX2 Gene Sequencing — Axenfeld‑Rieger Syndrome Type 1 (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21–28 calendar days |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL in EDTA); alternative specimens accepted upon prior laboratory consultation |
| Methodology Used | Amplicon‑based Next‑Generation Sequencing (NGS) on Illumina® platform with integrated CNV detection |
| ICD-10-CM Code | Q13.8 (Other congenital malformations of anterior segment of eye — Axenfeld‑Rieger syndrome) |
| LOINC Code | 55131-5 (PITX2 gene mutation analysis in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
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