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, muscle form

Laboratory Test Method Prenatal Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA• Sequence analysis of the entire coding region
• 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• Sequence analysis of the entire coding region
• Deletion/duplication analysis
bio.logis Center for Human Genetics - Frankfurt, Germany• Sequence analysis of the entire coding region
• Sequence analysis of select exons
Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory - Buffalo, NY, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Enzyme assay
 
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
 
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
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• Sequence analysis of the entire coding region
• Targeted mutation analysis
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
 
Duke University Health System, Glycogen Storage Disease Laboratory - Durham, NC, USA• Sequence analysis of the entire coding region
• Enzyme assay
Duke University Health System, Molecular Diagnostics Laboratory - Durham, NC, USA• Sequence analysis of the entire coding region
• Sequence analysis of select exons
 
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Deletion/duplication analysis
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
• Targeted mutation analysis
GSTS Pathology, DNA Laboratory - London, Great Britain• Sequence analysis of the entire coding region
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Targeted mutation analysis
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
Medical Neurogenetics - Atlanta, GA, USA• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain• Sequence analysis of the entire coding region
• 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 the entire coding region
• Sequence analysis of select exons
• Targeted mutation analysis
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain• Sequence analysis of the entire coding region

* 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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