Disorders


 

CASR-Related Familial Isolated Hypoparathyroidism


 

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
• Deletion/duplication analysis
  
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA• Sequence analysis of the entire coding region
  
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
  
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Mayo Clinic - Minnesota, Endocrine Laboratory - Rochester, MN, USA• Sequence analysis of the entire coding region
• Sequence analysis of select exons
 
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain• Sequence analysis 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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