Disorders

Glycogen Storage Disease Type V

Synonym(s): Glycogenosis Type V, GSD V, GSDV, McArdle Disease, McArdle Syndrome, Muscle Glycogen Phosphorylase Deficiency, Myophosphorylase Deficiency

GeneReview OMIM

Gene	Locus	Protein
PYGM	11q12-q13.2	Glycogen phosphorylase

Laboratory	Test Method	Prenatal	Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA	• Sequence analysis of select exons
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Enzyme assay
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
bio.logis Center for Human Genetics - Frankfurt, Germany	• Sequence analysis of select exons
Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory - Buffalo, NY, USA	• Targeted mutation analysis • Enzyme assay
CeGaT GmbH - Tuebingen, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
CGC Genetics - Porto, Portugal	• Targeted mutation analysis
Columbia University, Molecular Neurogenetics Laboratory - New York, NY, USA	• Targeted mutation analysis • Enzyme assay
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Targeted mutation analysis
diagenos - Osnabrueck, Germany
Duke University Health System, Glycogen Storage Disease Laboratory - Durham, NC, USA	• Enzyme assay
Duke University Health System, Molecular Diagnostics Laboratory - Durham, NC, USA	• Sequence analysis of select exons
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA	• Targeted mutation analysis
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Targeted mutation analysis
GSTS Pathology, DNA Laboratory - London, Great Britain
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Targeted mutation analysis
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Medical Neurogenetics - Atlanta, GA, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain	• Targeted mutation analysis
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India	• Targeted mutation analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Sequence analysis of select exons • Targeted mutation analysis
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain

^* 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.