Phosphorylase b kinase (PHKB)

GSD IXb

Chemical Pathology - Enzyme

For the diagnosis of glycogen storage disease type Ixb

1. 5 - 10 mL lithium heparin whole blood or

2. Muscle biopsy or

3. Liver biopsy

1. Send whole blood at ambient temperature to reach lab ideally within 24 hours of collection

2. Snap freeze immediately. Send sample on dry ice. Do NOT allow sample to thaw. To reach lab ideally within 24 hours

3. Snap freeze immediately. Send sample on dry ice. Do NOT allow sample to thaw. To reach lab ideally within 24 hours

1. 4 to 6 weeks

2. 4 to 6 weeks

3. 4 to 6 weeks

PHKB, GSD IX, PhK deficiency, Phosphorylase b kinase deficiency, Phosphorylase kinase deficiency

1. Yes

2. Yes

3. Yes