Disorders


 

FKRP-Related Muscle Diseases


Synonym(s): MDC1C, Walker-Warburg Syndrome, FKRP-Related

 

OMIM

GeneLocusProtein
FKRP19q13.32Fukutin-related protein

Laboratory Test Method Prenatal Carrier *
Aarhus University Hospital, Department of Clinical Genetics - Aarhus, Denmark• Targeted mutation analysis
  
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany• Linkage analysis
  
Centogene AG, Rare Disease Company - Rostock, Germany  
Children's University Hospital, Human Genetics - Berne, Switzerland• Mutation scanning of the entire coding region
  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
GGA - Galil Genetic Analysis - Kazerin, Israel  
GSTS Pathology, DNA Laboratory - London, Great Britain  
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
Medgene, MedGene - Bratislava, Slovakia  
Medical Neurogenetics - Atlanta, GA, USA  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany  
Nationwide Children's Hospital, ChildLab Molecular Genetics Laboratory - Columbus, OH, USA  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Linkage analysis
  
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany  
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA  
University of Iowa Hospitals and Clinics, Department of Pathology - Iowa City, IA, USA• Targeted mutation 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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