Disorders

Phosphorylase Kinase Deficiency

Synonym(s): Glycogen Storage Disease Type IX, GSD IX, GSDIX, PhK Deficiency, Phosphorylase b Kinase Deficiency

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Enzyme assay
Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory - Buffalo, NY, USA	• Enzyme assay
Duke University Health System, Glycogen Storage Disease Laboratory - Durham, NC, USA	• Enzyme assay

^* 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.