Disorders

POMGNT1-Related Muscle Diseases

Gene	Locus	Protein
POMGNT1	1p34.1	Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany	• Linkage analysis
diagenos - Osnabrueck, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
GSTS Pathology, DNA Laboratory - London, Great Britain
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada	• Enzyme assay
HUSLAB, Laboratory of Genetics - Helsinki, Finland	• Targeted mutation analysis
Medgene, MedGene - Bratislava, Slovakia
Praxis fuer Humangenetik Wien - Vienna, Austria
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands	• Linkage analysis
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.