Disorders

CASK-Related Disorders

Gene	Locus	Protein
CASK	Xp11.4	Peripheral plasma membrane protein CASK

Laboratory	Test Method	Prenatal	Carrier *
Academic Medical Center, Department of Genome Analysis and Laboratory for Neurogenetics - Amsterdam, Netherlands
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
CeGaT GmbH - Tuebingen, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA
Cologne University, Institute of Human Genetics - Cologne, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA

^* 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.