Test Price
2,800 AEDโ Home Collection Available
PAX2 Gene Focal Segmental Glomerulosclerosis Type 7 Genetic Test
Executive Summary & Core Metrics
Diagnostic Accuracy: 99.9% sensitivity via ISO-accredited next-generation sequencing for hereditary FSGS type 7 (OMIM #616002).
Premium Logistics: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM across Dubai, Abu Dhabi, and all UAE emirates.
Clinical Guidance: Complimentary post-test telephonic consultation with a DHA-licensed consultant medical geneticist for result interpretation and family counselling.
Insurance Verification: Direct billing confirmation via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The PAX2 Gene Focal Segmental Glomerulosclerosis Type 7 Genetic Test employs next-generation sequencing (NGS) to detect pathogenic variants in the PAX2 gene, the definitive cause of hereditary FSGS type 7. This test is essential for confirming diagnosis in patients with proteinuric kidney disease, guiding family screening, and informing renal-replacement planning. Our NGS platform achieves a 50-fold higher resolution than traditional Sanger sequencing, capturing single-nucleotide variants, small insertions or deletions, and exon-level copy-number changes that are characteristic of PAX2 pathology.
| Feature | Our Test โ NGS | Closest Alternative โ Single-Gene Sanger Sequencing |
|---|---|---|
| Methodology | Next-generation sequencing of entire PAX2 coding region including CNV analysis | Sanger sequencing limited to point mutations only |
| Variant Detection Rate | >99.9% for SNVs, indels, and exon-level deletions or duplications | ~90% โ cannot detect copy-number changes common in PAX2 pathology |
| Turnaround Time | 3 โ 4 weeks | 4 โ 6 weeks |
Physician Insight & Safety Protocols
โAs a consultant medical geneticist, I always correlate the PAX2 result with the patientโs renal ultrasound and three-generation pedigree. The same mutation can manifest as isolated mild proteinuria in one individual while causing end-stage kidney disease in a sibling. A negative result does not exclude other forms of FSGS; a positive finding must be discussed with a genetic counsellor before any life-changing clinical decision is made.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory โ Medication Continuation
Do not discontinue prescribed antihypertensives, immunosuppressants, or any nephrology medication without consulting your treating physician. Blood collection is performed while maintaining your current treatment regimen to ensure accurate clinical correlation.
Patient Exclusion Criteria & Emergency Red Flags
- Exclusion โ Active Illness: Postpone collection for two weeks following any febrile illness, major trauma, or surgery. Uncontrolled coagulopathy precludes standard venipuncture; discuss dried blood spot alternative with your clinician.
- Exclusion โ Informed Consent: Testing requires signed informed consent and mandatory attendance at a pre-test genetic counselling session. Refusal of either disqualifies the procedure.
- Red Flag โ Seek Emergency Care: Sudden oliguria, severe periorbital or lower-extremity edema, confusion, or dyspnea may indicate acute kidney injury unrelated to testing and requires immediate nephrology evaluation.
- Post-Sample Alert: If you develop a large hematoma, persistent bleeding, or vasovagal syncope after venipuncture, contact our medical team immediately via the emergency number provided during registration.
Patient FAQ & Clinical Guidance
1. What is the PAX2 gene and how is it linked to focal segmental glomerulosclerosis type 7?
The PAX2 gene provides the blueprint for a transcription factor essential for kidney and eye development. Inherited pathogenic variants in PAX2 cause focal segmental glomerulosclerosis type 7 (OMIM #616002), a progressive kidney disorder that can lead to end-stage renal disease. This test identifies those variants with greater than 99.9% sensitivity using NGS technology.
2. What sample is required and how is it collected?
Accepted specimen types include whole blood collected in EDTA tubes, extracted DNA, or dried blood spots on FTA cards. All collections are performed by DHA-licensed phlebotomists using sterile technique. For eligible patients, our VIP mobile phlebotomy service provides home collection with temperature-controlled cold-chain transport to the laboratory.
3. Is genetic counselling included with this test?
Yes. A mandatory pre-test genetic counselling session is conducted to construct a detailed pedigree and review the implications of possible results. After the report is issued, a complimentary telephonic consultation with a consultant medical geneticist is provided to explain findings and guide next steps for family screening and clinical management.
4. Is this test covered by insurance in the UAE?
Many UAE-based and international insurers cover PAX2 genetic testing when medically indicated. You can verify your coverage and direct billing eligibility by contacting our insurance verification team via WhatsApp at +971 54 548 8731 prior to your appointment.
UAE Regulatory & Data Privacy Adherence
Data Protection: All genetic data is processed and stored in full 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. Patient consent and clinical safety protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
Certifications: Our laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139). All reports adhere to DHA and MOHAP nomenclature standards.
Direct Billing: Insurance verification and direct billing support are available via WhatsApp at +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | PAX2 Gene Focal Segmental Glomerulosclerosis Type 7 Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 โ 4 weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with Copy Number Variation (CNV) Analysis |
| ICD-10-CM Code | N04.1 |
| LOINC Code | 90546-3 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians