Disorders


 

RYR1-Related Multiminicore Disease


 

OMIM

GeneLocusProtein
RYR119q13.1Ryanodine 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
  
GSTS Pathology, DNA Laboratory - London, Great Britain  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
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.

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