Disorders


 

CASR-Related Disorders


 

OMIM

GeneLocusProtein
CASR3q21.1Extracellular calcium-sensing receptor

Laboratory Test Method Prenatal Carrier *
Aarhus University Hospital, Aarhus Sygehus - Tage-Hansens Gade, Molecular Genetics Laboratory - Department of Clinical Biochemistry - Aarhus, Denmark• Mutation scanning of the entire coding region
  
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA  
Amplexa Genetics A/S, Amplexa Genetics - Odense, Denmark  
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
CeGaT GmbH - Tuebingen, Germany  
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany  
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
diagenos - Osnabrueck, Germany  
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany  
Endokrinologikum Hamburg - Center for Hormonal and Metabolic Diseases, Prenatal, and Reproductive Medicine, Molecular Diagnostics - Hamburg, Germany  
GeneDx - Gaithersburg, MD, USA  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
Mayo Clinic - Minnesota, Endocrine Laboratory - Rochester, MN, USA  
Medgene, MedGene - Bratislava, Slovakia  
Novogenia - Mondsee, Austria  
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain  
Praxis fuer Humangenetik Wien - Vienna, Austria  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain• Sequence analysis of select exons
  
Sunnybrook Health Sciences Centre, Molecular Genetics Laboratory - Toronto, Canada• Mutation scanning of the entire coding region
  

* 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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