Clinical background:
A panel of enzymes for investigation of glycogen storage disorders (GSD)
Analysis of the GSD gene panel is the preferred test in patients with a suspected GSD.
Analysis of individual enzyme may be required to confirm result of genetic testing.
Specimen container paediatric:
EDTA whole blood
Specimen container adult:
EDTA whole blood
Minimum volume paediatric:
5 mL
Minimum volume adult:
5 mL
Special requirements:
Must reach lab for processing within 24 hours (and before 2pm).
NOT acceptable on Friday.
Transport requirements:
Please notify laboratory before sending
First class post
Reference ranges:
Panel consists of:
Phosphorylase A 8 to 140 μmol/min/g protein
total phosphorylase 22 to 160 μmol/min/g protein
phosphorylase b kinase 6 to 30 mmol/min/g Hb
Debrancher 0.3 to 3 μmol/min/g protein
Other Info:
Referral Laboratory: Enzyme Unit, Chemical Pathology, Level 5, Camelia Botnar Laboratories, Great Ormond Street Hospital, London WC1N 3JH