Disorders

Central Core Disease

Gene	Locus	Protein
RYR1	19q13.1	Ryanodine receptor 1

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
Centre Hospitalier Universitaire de Grenoble, Biochimie Genetique et Molculaire - Grenoble, France	• Sequence analysis of select exons • Linkage analysis • Protein analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Mutation scanning of select exons
Medical Neurogenetics - Atlanta, GA, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Ruhr University, Human Genetics - Bochum, Germany	• Mutation scanning of select exons
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.