Disorders


 

PHKG2-Related Phosphorylase Kinase Deficiency


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

 

OMIM

GeneLocusProtein
PHKG216p11.2Phosphorylase 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.

Loading...