Disorders


 

Glycogen Storage Disease Type VII


Synonym(s): GSD VII, GSDVII, PFK Deficiency, Phosphofructokinase Deficiency, Tarui Disease

 

OMIM

GeneLocusProtein
PFKM12q13.116-phosphofructokinase, muscle type

Laboratory Test Method Prenatal Carrier *
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
Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory - Buffalo, NY, USA• Enzyme assay
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
Columbia University, Molecular Neurogenetics Laboratory - New York, NY, USA• Targeted mutation analysis
• Enzyme assay
Duke University Health System, Glycogen Storage Disease Laboratory - Durham, NC, USA• Enzyme assay
GSTS Pathology, DNA Laboratory - London, Great Britain• 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
 

* 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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