Disorders


 

Beta-Sarcoglycanopathy


Synonym(s): LGMD2E

 

OMIM

GeneLocusProtein
SGCB4q12 

Laboratory Test Method Prenatal Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Sequence analysis of the entire coding region
 
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Children's University Hospital, Human Genetics - Berne, Switzerland• Mutation scanning of the entire coding region
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
 
Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis - Leiden, Netherlands• Sequence analysis of the entire coding region
 
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
 
Medical Neurogenetics - Atlanta, GA, USA• Sequence analysis of the entire coding region
 
Nationwide Children's Hospital, ChildLab Molecular Genetics Laboratory - Columbus, OH, USA• Sequence analysis of the entire coding region
 
Praxis fuer Humangenetik Wien - Vienna, Austria• 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
Ruhr University, Human Genetics - Bochum, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
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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