Test Price
2,800 AED✅ Home Collection Available
COL4A4 Alport Syndrome Autosomal Recessive Genetic Test (NGS) in UAE
Executive Summary & Core Metrics
Diagnostic Overview: The COL4A4 Autosomal Recessive Alport Syndrome Genetic Test is a high-resolution molecular diagnostic assay utilizing Next-Generation Sequencing (NGS) to detect pathogenic variants in the COL4A4 gene. This test is essential for confirming a diagnosis of Alport syndrome, distinguishing it from other glomerular basement membrane disorders, and guiding personalized treatment and surveillance plans for patients and their families in the UAE.
Diagnostic Accuracy: 99.9% analytical sensitivity for COL4A4 variants.
Specimen Requirements: Peripheral Whole Blood, FTA Card, or Extracted DNA (15 µg).
Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
Turnaround Time: 21–28 Days.
Insurance & Billing: Direct billing verification via WhatsApp +971 54 548 8731.
Post-Test Support: Complimentary telephonic interpretation by a Consultant Medical Geneticist.
Test Overview & Methodology
Next-generation sequencing of the COL4A4 gene provides a definitive molecular diagnosis for autosomal recessive Alport syndrome, revealing pathogenic mutations that cause sensorineural hearing loss, progressive kidney disease, and ocular defects. This targeted approach ensures comprehensive coverage of all coding regions, deep intronic areas, and splice sites, which may be missed by broader exome sequencing.
| Feature | COL4A4 Targeted NGS Test | Whole Exome Sequencing (WES) |
|---|---|---|
| Precision | Full COL4A4 gene coverage, deep intronic & splice-site variants, 99.9% sensitivity | Whole‑exome; may miss regulatory variants; ~95% sensitivity for known regions |
| Method | Illumina NovaSeq™ NGS + Sanger confirmation + bioinformatic pathogenicity scoring | Exome capture + NGS, no targeted validation for COL4A4 |
| Turnaround | 21–28 Days | 6–10 Weeks |
Physician Insight & Safety Protocols
Clinical Management Advisory
The detection of a pathogenic COL4A4 variant necessitates a multidisciplinary management approach. Do not alter prescribed therapies, including ACE inhibitors or immunosuppressive regimens, solely based on genetic findings without consulting the managing nephrologist or geneticist. This test result is intended to guide, not replace, clinical judgment.
Exclusion Criteria & Emergency Red Flags
- Active systemic infection requiring antibiotic therapy – defer collection until clinical resolution.
- Known coagulopathy or INR > 3.0 – coordinate with hematology prior to phlebotomy.
- Pediatric collection for minors under 4 years requires a dedicated pediatric phlebotomy protocol and explicit guardian consent under Federal Law No. 2 of 2019.
- Emergency red flags: Acute vision loss, sudden sensorineural hearing loss with vertigo, or gross hematuria with oliguria require immediate emergency department evaluation.
Patient FAQ & Clinical Guidance
1. What is the COL4A4 genetic test used for?
This test is used to confirm a diagnosis of Autosomal Recessive Alport Syndrome (ARAS), a genetic condition characterized by progressive kidney disease, sensorineural hearing loss, and specific ocular abnormalities. It identifies pathogenic mutations in the COL4A4 gene, aiding in prognosis, family screening, and clinical management.
2. How is the sample collected for this test?
Sample collection is typically performed via standard venipuncture (peripheral whole blood) or an FTA card (dried blood spot). Our service offers VIP Mobile Phlebotomy by DHA-licensed professionals at your home in Dubai and across the UAE, strictly adhering to temperature-controlled cold-chain protocols to ensure sample integrity.
3. What do the results mean for my family and me?
A positive result identifies two pathogenic variants in the COL4A4 gene, confirming ARAS. This has significant implications for at-risk family members, who may benefit from cascade screening and genetic counseling. A negative or inconclusive result does not fully rule out Alport syndrome, as variants in other genes (COL4A3, COL4A5) may be responsible. A complimentary telephonic consultation with our Consultant Medical Geneticist is included to explain your results in detail.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance and Data Protection Framework
This diagnostic service operates under the strict regulatory oversight of the Dubai Health Authority (DHA) and adheres to the highest standards of medical data privacy and security as mandated by:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): Ensuring the lawful processing, storage, and transfer of your genetic and personal health information.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Governing the secure handling of electronic health records and telemedicine components of the testing service.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Establishing the legal framework for clinical responsibility and patient safety throughout the diagnostic process.
- ISO 9001:2015 (INT/EGQ/2509DA/3139): Reflecting our commitment to a quality management system in laboratory operations and customer service.
Clinical & Logistical Metadata
| Test Name | COL4A4 Alport Syndrome Autosomal Recessive Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 21–28 Days |
| Sample Type / Matrix | Peripheral Whole Blood, FTA Card, or Extracted DNA |
| Methodology Used | Whole Gene Next-Generation Sequencing (NGS) on Illumina NovaSeq™ with Sanger Confirmation |
| ICD-10-CM Code | Q87.81 (Alport syndrome) |
| LOINC Code | 101231-1 (COL4A4 full gene sequencing) |
| DHA Facility License & Lab Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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