Glycogen branching enzyme (GSD IV)
Clinical Background:
Investigation of glycogen storage disease type 4 (Andersen disease).
Analysis of the GSD gene panel is the preferred test for patients with a suspected GSD.
Analysis of individual enzymes may be requ...
Investigation of glycogen storage disease type 4 (Andersen disease).
Analysis of the GSD gene panel is the preferred test for patients with a suspected GSD.
Analysis of individual enzymes may be required to confirm results of genetic testing.
Test Details
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Discipline:
Biochemistry
Biochemistry
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Specimen Container Adult:
Lithium heparin whole blood
Lithium heparin whole blood
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Specimen Container Paediatric:
Lithium heparin whole blood
Lithium heparin 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)
Please notify laboratory first.
NOT acceptable on FridayMust reach lab for processing within 24 hours (and before 2pm)
Please notify laboratory first.
NOT acceptable on Friday -
Transport Requirements:
Please notify laboratory before sending
Please notify laboratory before sending
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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: