Disorders

Limb-Girdle Muscular Dystrophy Type 1A

Synonym(s): LGMD 1A, LGMD1A

Gene	Locus	Protein
MYOT	5q31.2	Myotilin

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
HIBM Research Group - Reseda, CA, USA
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland	• Targeted mutation analysis
Medgene, MedGene - Bratislava, Slovakia
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

^* 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.