Disorders

PHKG2-Related Phosphorylase Kinase Deficiency

Synonym(s): Glycogen Storage Disease Type IXc, GSD IXc, GSDIXc, PHKG2-Related Glycogen Storage Disease Type IX

Gene	Locus	Protein
PHKG2	16p11.2	Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Duke University Health System, Molecular Diagnostics Laboratory - Durham, NC, USA	• Sequence analysis of the entire coding region
GSTS Pathology, DNA Laboratory - London, Great Britain	• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain	• Sequence analysis of the entire coding region
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• Sequence analysis of the entire coding region

^* 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.