Disorders


 

Calpainopathy


Synonym(s): LGMD 2A, LGMD2A, Limb Girdle Muscular Dystrophy Type 2A

 

GeneReviewOMIM

GeneLocusProtein
CAPN315q15.1 

Laboratory Test Method Prenatal Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
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  
diagenos - Osnabrueck, Germany  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland• Targeted mutation analysis
  
Institut de Pathologie et de Genetique, Centre de Genetique Humaine - Gosselies, Belgium  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis - Leiden, Netherlands  
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland• Targeted mutation analysis
  
Medgene, MedGene - Bratislava, Slovakia  
Medical Neurogenetics - Atlanta, GA, USA  
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  
University Hospital Brno, Center of Molecular Biology and Gene Therapy - Brno, Czech Republic  
University of Iowa Hospitals and Clinics, Department of Pathology - Iowa City, IA, USA  
University of Utah, Utah Genome Center - Salt Lake City, UT, 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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