Test Price
2,800 AED✅ Home Collection Available
PAX6 Gene Foveal Hypoplasia Type 1 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited processing.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Facility: DHA Licensed Laboratory No. 1143, DNA Labs UAE, Dubai Healthcare City.
Test Overview & Methodology
The PAX6 gene foveal hypoplasia type 1 NGS test is a definitive genetic assay that detects mutations in the PAX6 gene, responsible for congenital foveal hypoplasia, aniridia, and related ocular developmental anomalies. This test aids ophthalmologists and geneticists in confirming a clinical diagnosis, guiding prognosis, and enabling family risk assessment.
| Feature | Our Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | >99.9% sensitivity; full PAX6 gene coverage (exons, splice sites, CNV) | Detects only point mutations and small indels; may miss large deletions/duplications |
| Method | Next-Generation Sequencing (NGS) on Illumina® platform | Sanger sequencing (single-fragment analysis) |
| Turnaround Time | 3–4 Weeks | 5–6 Weeks (often longer) |
| Price | 2800 AED | ~3500 AED |
Physician Insight & Safety Protocols
“Genetic testing for PAX6-associated disorders provides definitive molecular confirmation of congenital foveal hypoplasia and aniridia spectrum conditions. A thorough pre-test counseling session helps patients understand recurrence risks and enables tailored family planning. I strongly recommend combining genomic analysis with formal genetic counseling before and after the assay.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory – Medication & Clinical Precautions
Important Clinical Advisory
Do not discontinue any prescribed medication without consulting your physician. The genetic test result is intended to guide diagnosis and management; it does not replace ongoing clinical care or emergency intervention.
Exclusion Criteria & Emergency Red Flags
- Testing is not performed on minors without legal guardian consent and a formal genetic counseling session, in compliance with UAE Federal Law No. 2 of 2019 and PDPL standards.
- Specimens that are hemolyzed, clotted, or improperly stored will be rejected.
- If collection uses a dried blood spot on FTA card, the card must remain free from moisture and handled with sterile gloves.
- Seek immediate emergency care if: you experience acute vision loss, severe headache, eye pain, or thoughts of self-harm after receiving results.
Patient FAQ & Clinical Guidance
1. What is the PAX6 gene foveal hypoplasia type 1 test and why is it done?
This NGS test detects PAX6 mutations causing foveal hypoplasia type 1, an inherited eye malformation with aniridia. The assay analyzes the entire coding region and intron-exon boundaries of the PAX6 gene using Next-Generation Sequencing, providing definitive molecular diagnosis for congenital foveal hypoplasia and related aniridia spectrum disorders. It supports clinical management, prognosis, and recurrence risk assessment in families.
2. How is the sample collected and what is the turnaround time?
Home blood collection by a certified phlebotomist; results delivered within three to four weeks. A trained VIP mobile phlebotomist visits your home or preferred location to draw a whole blood sample (or collect a dried blood spot on FTA card) using strict cold-chain protocols. The sample is transported to our ISO-certified lab, and you receive a comprehensive report within 3–4 weeks.
3. Is genetic counseling included, and do you assist with insurance?
A mandatory genetic counseling session with pedigree charting is provided; we directly verify insurance coverage on WhatsApp. Before the test, you will attend a telehealth genetic counseling session where your family history is reviewed and a pedigree is drawn to assess inheritance patterns. Additionally, our team performs direct insurance eligibility checks via WhatsApp at +971 54 548 8731 to minimize out-of-pocket costs.
4. What are the benefits of NGS over traditional Sanger sequencing for this test?
NGS provides comprehensive coverage of the PAX6 gene, including all coding exons, splice sites, and the ability to detect copy number variations (CNVs) that Sanger sequencing may miss. This results in higher diagnostic yield and fewer inconclusive reports, making NGS the preferred method for complex genetic eye disorders.
UAE Regulatory & Data Privacy Adherence
This test and all associated data handling 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. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory holds ISO 9001:2015 certification (Cert No. INT/EGQ/2509DA/3139) and operates under DHA Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | PAX6 Gene Foveal Hypoplasia Type 1 Genetic Test (NGS) |
| Price (AED) | 2800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood or Dried Blood Spot (FTA Card) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina® Platform |
| ICD-10-CM Code | Q14.1, Q13.1 |
| LOINC Code | 93296-9 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians