Disorders


 

Glycogen Storage Disease Type V


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

 

GeneReviewOMIM

GeneLocusProtein
PYGM11q12-q13.2Glycogen 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.

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