Genetic testing for pathogenic COL4A3-5 variants is usually undertaken to investigate the cause of persistent hematuria, especially with a family history of hematuria or kidney function impairment. Alport syndrome experts now advocate genetic testing for persistent hematuria, even when a heterozygous pathogenic COL4A3 or COL4A4 is suspected, and cascade testing of their first-degree family members because of their risk of impaired kidney function. The experts recommend too that COL4A3 or COL4A4 heterozygotes do not act as kidney donors. Testing for variants in the COL4A3-COL4A5 genes should also be performed for persistent proteinuria and steroid-resistant nephrotic syndrome due to suspected inherited FSGS and for familial IgA glomerulonephritis and kidney failure of unknown cause.

Alport UK United Kingdom

Birmingham Children's Hospital Birmingham United Kingdom

Bristol Genetics Laboratory Pathology Sciences Southmead Hospital Southmead United Kingdom

Bristol Renal Unit Bristol Medical School University of Bristol Bristol United Kingdom

Center for Human Genetics University Hospitals and Katholieke Universiteit Leuven Leuven Belgium

Center of Excellence in Biobanking and Biomedical Research University of Cyprus Medical School Nicosia Cyprus

Centre for Nephrology and Metabolic Disorders Weisswasser Germany

Centre for Rare Diseases and Clinical Genetics Unit Medical University of Gdansk Gdansk Poland

Clinic of Pediatrics Institute of Clinical Medicine Faculty of Medicine Vilnius University Vilnius Lithuania

Departement de Biologie Moleculaire Institute de Pathologie et de Genetique Gosselies Belgium

Department of Biology School of Medicine University of Zagreb Zagreb Croatia

Department of Biomedical Sciences University Hospital of Ostrava Ostrava Czech Republic

Department of Clinical Genetics Guy's and St Thomas' National Health Service Foundation Trust London United Kingdom

Department of Clinical Genetics Maastricht University Medical Center Maastricht The Netherlands

Department of Clinical Genetics Odense University Hospital Odense Denmark

Department of Experimental Diagnostic and Specialty Medicine Nephrology Dialysis and Renal Transplant Unit S Orsola Hospital University of Bologna Bologna Italy

Department of Genetics University Medical Center Utrecht The Netherlands

Department of Medical Biotechnology Medical Genetics University of Siena Siena Italy

Department of Medical Genetics University Hospital of Ostrava Ostrava Czech Republic

Department of Medicine The University of Melbourne Parkville Victoria Australia

Department of Medicine University of Washington Seattle Washington

Department of Nephrology and Renal Transplantation University Hospitals Leuven Katholieke Universiteit Leuven Leuven Belgium

Department of Pathology University of Washington Seattle Washington

Department of Pathology University of Zagreb School of Medicine Dubrava University Hospital Zagreb Croatia

Division of Nephrology and Dialysis Bambino Gesù Children's Hospital Rome Italy

Division of Nephrology and Dialysis University Hospital of Verona Verona Italy

Division of Nephrology Department of Medicine University of Utah Health Salt Lake City Utah

Health Sciences Centre University of Utah Salt Lake City Utah

Institut de Pathologie et de Génétique Center for Human Genetics Gosselies Belgium

Institute of Biomedical Sciences Faculty of Medicine Vilnius University Vilnius Lithuania

Institute of Human Genetics Technical University of Munich Munich Germany

Medical Genetics Unit Department of Clinical and Experimental Biomedical Sciences Mario Serio University of Florence Florence Italy

Medical Genetics Unit Meyer Children's University Hospital Florence Italy

Molecular Biology Laboratory Fundacio Puigvert Instituto de Investigaciones Biomédicas Sant Pau Universitat Autonoma de Barcelona Instituto de Investigación Carlos 3 Barcelona Spain

Molecular Genetics Viapath Laboratories Guy's Hospital London United Kingdom

Nephrology Unit Meyer Children's University Hospital Florence Italy

Nephrology Unit University of Campania Naples Italy

North East Thames Regional Genetics Laboratory Great Ormond Street Hospital London United Kingdom

Pediatric Nephrology Department Fundeni Clinical Institute Bucharest Romania

School of Immunology and Microbial Sciences Faculty of Life Sciences King's College London London United Kingdom

South West Genetic Laboratory Hub North Bristol Trust Bristol United Kingdom

Wellcome Centre for Cell Matrix Research Division of Cell Matrix Biology and Regenerative Medicine School of Biological Sciences Faculty of Biology Medicine and Health The University of Manchester Manchester United Kingdom

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