Disorders


 

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 2


Synonym(s): ARVD2

 

OMIM

GeneLocusProtein
RYR21q43Ryanodine receptor 2

Laboratory Test Method Prenatal Carrier *
Aarhus University Hospital, Department of Molecular Medicine - Aarhus, Denmark• Sequence analysis of select exons
  
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands• Sequence analysis of the entire coding region
  
Centre Hospitalier Universitaire de Grenoble, Biochimie Genetique et Molculaire - Grenoble, France• Sequence analysis of select exons
• Mutation scanning of the entire coding region
• Linkage analysis
  
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Health in Code S.L. - A Coruña, Spain• Sequence analysis of select exons
 
Oslo University Hospital HF - Ullevaal, Department of Medical Genetics - Unit for Cardiac and Cardiavasular Genetics - Oslo, Norway• Sequence analysis of select exons
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Sequence analysis of select exons
 
University Hospital Münster, Institute for Genetics of Heart Diseases (IfGH) - Münster, Germany• Sequence analysis of the entire coding region
 

* 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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