Disorders

UMOD-Associated Kidney Disease

Synonym(s): Uromodulin Storage Disease, Uromodulin-Associated Kidney Disease

Gene	Locus	Protein
UMOD	16p12.3	Uromodulin

Laboratory	Test Method	Prenatal	Carrier *
Aachen, RWTH, Institute of Human Genetics - Aachen, Germany
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain	• Sequence analysis of select exons
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Sequence analysis of select exons
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Cologne University, Institute of Human Genetics - Cologne, Germany
diagenos - Osnabrueck, Germany	• Sequence analysis of select exons
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Sequence analysis of select exons
Institut de Pathologie et de Genetique, Centre de Genetique Humaine - Gosselies, Belgium
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Medgene, MedGene - Bratislava, Slovakia
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain
Praxis fuer Humangenetik Wien - Vienna, Austria
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Sequence analysis of select exons

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.