Disorders

EYA1-Related Branchiootorenal Spectrum Disorders

Synonym(s): Branchiootic Syndrome 1, Branchiootorenal Syndrome 1

Gene	Locus	Protein
EYA1	8q13.3	Eyes absent homolog 1

Laboratory	Test Method	Prenatal	Carrier *
Aachen, RWTH, Institute of Human Genetics - Aachen, Germany	• Linkage analysis
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany	• Linkage analysis
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
diagenos - Osnabrueck, Germany
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
GeneDx - Gaithersburg, MD, USA
GGA - Galil Genetic Analysis - Kazerin, Israel
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada
Institut de Pathologie et de Genetique, Centre de Genetique Humaine - Gosselies, Belgium
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Medgene, MedGene - Bratislava, Slovakia
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
Praxis fuer Humangenetik Wien - Vienna, Austria
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands

^* 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.