Test Price
2,800 AED✅ Home Collection Available
PAX2 Gene Papillorenal Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- ✓Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS 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 in result interpretation by DHA-licensed genetic counsellors.
- ✓Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PAX2 Gene NGS Test detects pathogenic variants in the PAX2 gene associated with Papillorenal Syndrome (Renal-Coloboma Syndrome). This comprehensive analysis aids in confirming a clinical diagnosis, guiding nephrological and ophthalmological surveillance, and informing family planning. The test utilizes next-generation sequencing to provide full exon coverage and copy number variant detection, achieving a diagnostic yield exceeding 95% for pathogenic variants.
| Feature | DNA Labs UAE NGS Test | Traditional Single-Gene Sequencing |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) – full exon coverage & copy number variant detection | Sanger sequencing – limited to point mutations, no CNV analysis |
| Turnaround Time | 3 to 4 Weeks | 6–8 Weeks |
| Diagnostic Yield | >95% for pathogenic variants | ~85% (misses large deletions/duplications) |
| Regulatory Accreditation | DHA/MOHAP Approved, ISO 9001:2015 | Variable accreditations |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics, I recognize the anxiety that a genetic diagnosis can bring. This test provides a molecular foundation for precise, individualized care; however, variants of uncertain significance require correlation with clinical findings. Always discuss results with your genetic counsellor or paediatric nephrologist."
– Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory: Medication and Clinical Management
Do not discontinue any prescribed medication without consulting your physician. Genetic results do not replace ongoing nephrology or ophthalmology management. Always correlate molecular findings with imaging and biochemical markers before making interventional decisions.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients without a signed informed consent or genetic counselling session prior to sample collection.
- Exclusion: Samples not collected in the specified tubes (EDTA whole blood, DNA FTA card) or handled outside cold-chain conditions.
- Red Flag: If the patient experiences sudden vision loss, severe hypertension, or acute kidney injury symptoms, seek emergency care immediately — this test is elective and does not address acute crises.
- Red Flag: Do not rely solely on genetic results for surgical or interventional decisions; always correlate with imaging and biochemical markers.
Patient FAQ & Clinical Guidance
1. What does the PAX2 gene test diagnose?
The PAX2 gene test identifies pathogenic variants causing Papillorenal Syndrome (Renal-Coloboma Syndrome), a hereditary disorder that affects kidney and eye development from birth. It also helps detect asymptomatic carriers for family planning.
2. How is the sample collected for this genetic test?
Sample collection is straightforward: a standard peripheral blood draw into an EDTA tube, a cheek swab (buccal mucosa), or a dried blood spot on an FTA card. Our VIP Mobile Phlebotomy service can visit your home between 8 AM and 11 PM with temperature-controlled transport.
3. Can this test be performed on children, and what consent is required?
Yes, the test can be performed on minors with mandatory parental or guardian consent. A pre-test genetic counselling session is required for all patients, including minors, to ensure informed decision-making as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
4. What is the turnaround time and how will I receive results?
The turnaround time is 3 to 4 weeks from sample receipt. Results are delivered via a secure, encrypted digital report accessible through your patient portal, and a telephonic consultation with a DHA-licensed genetic counsellor is included.
UAE Regulatory & Data Privacy Adherence
Data Protection & Healthcare Compliance: This service strictly adheres to 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. All genetic data is processed in ISO 9001:2015 certified laboratories (Cert: INT/EGQ/2509DA/3139). Patient consent and safety protocols comply with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | PAX2 Gene Papillorenal Syndrome Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA), buccal swab, or FTA card; VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available |
| Methodology Used | Next-Generation Sequencing (NGS) – full exon coverage with CNV detection |
| ICD-10-CM Code | Q87.8, Q60.3, Q13.8 |
| LOINC Code | 85705-0 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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