https://www.gosh.nhs.uk/wards-and-departments/departments/laboratory-medicine/laboratory-database/phosphorylase/
Phosphorylase
EPIC
GSD V
Section
Chemical Pathology - Enzyme
Clinical indications
For diagnosis of glycogen storage disease type V (muscle phosphorylase deficiency)
Specimen requirement
Muscle 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
McArdle disease, McArdle syndrome, GSD type V, GSDV
Is it IS0 15189 accredited?
Yes