Disorders


 

Limb-Girdle Muscular Dystrophy Type 2G


Synonym(s): LGMD 2G, LGMD2G, Telethoninopathy

 

OMIM

GeneLocusProtein
TCAP17q12Telethonin

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, 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
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands• Sequence analysis of the entire coding region
 
Medical Neurogenetics - Atlanta, GA, USA• Sequence analysis of the entire coding region
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication 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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