COL4A3 Gene Sequencing (Alport Syndrome, Autosomal Recessive) – Molecular Diagnostic Test in UAE

Executive Summary & Core Metrics

The COL4A3 genetic sequencing test delivers a definitive molecular diagnosis for autosomal recessive Alport syndrome by detecting pathogenic variants in the COL4A3 gene. Performed under ISO 9001:2015 accredited processes, this assay achieves 99.9% diagnostic sensitivity and supports early renal, auditory, and ophthalmologic surveillance.

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 8 AM – 11 PM).
Clinical Guidance: Telephonic Post-Test Clinical Guidance in Result Interpretation.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The COL4A3 Genetic Test utilizes next-generation sequencing (NGS) on the Illumina platform to interrogate all coding exons and flanking intronic regions (±5 base pairs) of the COL4A3 gene. Orthogonal confirmation of detected variants is performed to ensure analytical accuracy. This molecular assay is indicated for individuals with clinical suspicion of Alport syndrome or a family history consistent with autosomal recessive inheritance. A definitive molecular diagnosis enables targeted nephrology follow-up, hearing and vision monitoring, and informed family planning.

Feature	Our COL4A3 NGS Test (UAE)	Closest Alternative
Precision	Full Gene Sequencing (all exons ±5 bp)	Targeted mutation panel (limited variants)
Method	NGS (Illumina platform) with orthogonal confirmation	Sanger sequencing or MLPA (partial coverage)
Turnaround	3–4 Weeks (streamlined in-house workflow)	6–8 Weeks (fragmented outsourcing model)

Physician Insight & Safety Protocols

Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403: “A negative COL4A3 sequencing result does not exclude all hereditary nephropathies; however, a clearly pathogenic variant provides a definitive molecular diagnosis that enables targeted renal surveillance, hearing assessments, and cascade screening for at-risk relatives. I advise all patients to interpret this result within the full context of their clinical history and pedigree analysis.”

Advisory Notice

Do not discontinue any prescribed medication or alter your current management plan without consulting your treating physician. Genetic test results guide long-term surveillance strategies and should not replace emergency care.

Safety Exclusion Criteria & ER Red Flags

Exclusion: This test is not indicated for individuals without a clinical suspicion of Alport syndrome or a documented family history of COL4A3-associated disease. It is a confirmatory diagnostic tool, not a general population screening assay.
ER Red Flag: If you experience sudden hearing loss, rapid decline in urine output, or acute visual disturbances, seek emergency medical care immediately — do not wait for genetic results to guide acute management.

Patient FAQ & Clinical Guidance

1. What is the clinical utility of the COL4A3 NGS test?

This test provides a definitive molecular diagnosis for autosomal recessive Alport syndrome by identifying pathogenic variants in the COL4A3 gene. The result enables precise genetic counseling, early nephrology follow-up, and proactive monitoring for hearing loss and vision changes.

2. How should I prepare for the sample collection?

A peripheral whole blood sample (2–3 mL EDTA tube), extracted DNA, or a single blood spot on an FTA card is accepted. A pre-test genetic counseling session to document your family pedigree is strongly recommended before proceeding with sequencing.

3. Who may order this test and how are results reported?

General Physicians, Primary Care Doctors, Medical Geneticists, and qualified Researchers can order this test. Results are issued as a clinical molecular report including ACMG-classified variants, a concise interpretation aligned with international guidelines, and secure digital delivery via encrypted channels.

UAE Regulatory & Data Privacy Adherence

Regulatory Framework: All services 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 follow Federal Decree-Law No. 4 of 2016 on Medical Liability. Laboratory processing is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139).

Clinical & Logistical Metadata

Test Name	COL4A3 Gene Sequencing (Alport Syndrome, Autosomal Recessive)
Price (AED)	2,800 AED
Turnaround Time	3–4 Weeks
Sample Type / Matrix	Peripheral Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot
Methodology Used	Next-Generation Sequencing (NGS) – Illumina Platform with Orthogonal Confirmation
ICD-10-CM Code	Q87.81 (Alport Syndrome), N07.9 (Hereditary Nephritis)
LOINC Code	21636-6 (COL4A3 gene analysis in Blood or Tissue by Molecular genetics method)
DHA Facility License & Laboratory Address	DHA License No.: 1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE