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