Disorders


 

EYA1-Related Branchiootorenal Spectrum Disorders


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

 

OMIM

GeneLocusProtein
EYA18q13.3Eyes 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.

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