Phosphorylase

GSD VI

Chemical Pathology - Enzyme

For the diagnosis of glycogen storage disease type VI (liver phosphorylase deficiency)

1. 5 - 10 mL lithium heparin whole blood or

2. Liver biospy

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

1. 4 to 6 weeks 2. 4 to 6 weeks

Hers disease, GSDVI, GSD6, GSD type VI, Liver phosphorylase, deficiency

1. Yes

2. Yes