Disorders

CASR-Related Familial Isolated Hypoparathyroidism

Gene	Locus	Protein
CASR	3q21.1	Extracellular 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
CeGaT GmbH - Tuebingen, Germany
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
GeneDx - Gaithersburg, MD, USA
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Mayo Clinic - Minnesota, Endocrine Laboratory - Rochester, MN, USA	• Sequence analysis of select exons
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain

^* 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.