Disorders

PHKA2-Related Phosphorylase Kinase Deficiency

Synonym(s): Glycogen Storage Disease Type IXa, Glycogen Storage Disease Type VIII, X-Linked, GSD IXa, GSDIXa, PHKA2-Related Glycogen Storage Disease Type IX, X-linked Liver Glycogenosis

OMIM

Gene	Locus	Protein
PHKA2	Xp22.2-p22.1	Phosphorylase b kinase regulatory subunit alpha, liver isoform

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Duke University Health System, Molecular Diagnostics Laboratory - Durham, NC, USA
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.