Disorders

Glycogen Storage Disease Type VII

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

Gene	Locus	Protein
PFKM	12q13.11	6-phosphofructokinase

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
Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory - Buffalo, NY, USA	• Enzyme assay
Centogene AG, Rare Disease Company - Rostock, Germany
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
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

^* 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.