Disorders

LARGE-Related Muscle Diseases

Synonym(s): Congenital Muscular Dystrophy Type 1D, Walker-Warburg, LARGE-Related

Gene	Locus	Protein
LARGE	22q12.3	Glycosyltransferase-like protein LARGE1

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany	• Linkage analysis
Centogene AG, Rare Disease Company - Rostock, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GSTS Pathology, DNA Laboratory - London, Great Britain
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
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

^* 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.