Disorders

Glycogen Storage Disease Type III

Synonym(s): Cori Disease, Debrancher Deficiency, Forbe Disease, GSD III, GSDIII

Gene	Locus	Protein
AGL	1p21	Glycogen debranching enzyme

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
CeGaT GmbH - Tuebingen, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Duke University Health System, Glycogen Storage Disease Laboratory - Durham, NC, USA	• Enzyme assay
Duke University Health System, Molecular Diagnostics Laboratory - Durham, NC, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
GSTS Pathology, DNA Laboratory - London, Great Britain
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea	• Analyte • Enzyme assay
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India	• Linkage analysis • Analyte
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.