Disorders


 

RYR1-Related Multiminicore Disease


 

OMIM

GeneLocusProtein
RYR119q13.1Ryanodine receptor 1

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Centre Hospitalier Universitaire de Grenoble, Biochimie Genetique et Molculaire - Grenoble, France• Sequence analysis of the entire coding region
• Sequence analysis of select exons
• Linkage analysis
• Protein analysis
 
GSTS Pathology, DNA Laboratory - London, Great Britain• Sequence analysis of the entire coding region
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
Medical Neurogenetics - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
Ruhr University, Human Genetics - Bochum, Germany• Mutation scanning of select exons
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis

* 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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