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

GeneLocusProtein
PHKA2Xp22.2-p22.1Phosphorylase b kinase regulatory subunit alpha, liver 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
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
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

* 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.

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