Glycogen storage disorders
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 re...
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
Test Details
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Discipline:
Biochemistry
Biochemistry
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Specimen Container Adult:
EDTA whole blood
EDTA whole blood
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Specimen Container Paediatric:
EDTA whole blood
EDTA whole blood
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Minimum Volume Adult:
5 mL
5 mL
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Minimum Volume Paediatric:
5 mL
5 mL
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Special Requirement:
Must reach lab for processing within 24 hours (and before 2pm).
NOT acceptable on Friday.Must reach lab for processing within 24 hours (and before 2pm).
NOT acceptable on Friday. -
Transport Requirements:
Please notify laboratory before sending
First class postPlease 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 proteinPanel 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 -
Routine Contact Name:
Duty Biochemist
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Routine Telephone:
Freeman: 0191 244 8889
RVI: 0191 282 9719
Freeman: 0191 244 8889
RVI: 0191 282 9719
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Routine Email:
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Specialist Test:
Yes
Yes
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Specialist Contact Name:
Metabolic Clinical Scientist
Metabolic Clinical Scientist
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Specialist Telephone:
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
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Specialist Email: