https://www.gosh.nhs.uk/wards-and-departments/departments/laboratory-medicine/laboratory-database/phosphorylase-b-kinase-phkg2/
Phosphorylase b kinase (PHKG2)
EPIC
GSD IXc
Section
Chemical Pathology - Enzyme
Clinical indications
For the diagnosis of glycogen storage disease type Ixc
Specimen requirement
Liver biopsy
Dispatch and handling instructions
Snap freeze immediately. Send sample on dry ice. Do NOT allow sample to thaw. To reach lab ideally within 24 hours
Turnaround time
4 to 6 weeks
Synonym
PHKG2, GSD IX, PhK deficiency, Phosphorylase b kinase deficiency, Phosphorylase kinase deficiency
Is it IS0 15189 accredited?
Yes