Disorders

Glycogen Storage Disease Type VI

Synonym(s): GSD VI, GSDIV, Hers Disease

Gene	Locus	Protein
PYGL	14q11.2-q24.3	Glycogen phosphorylase

Laboratory	Test Method	Prenatal	Carrier *
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
Duke University Health System, Glycogen Storage Disease Laboratory - Durham, NC, USA	• Enzyme assay
GSTS Pathology, DNA Laboratory - London, Great Britain
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.