Alpha glucosidase
Clinical Background:
Screening for Pompe disease, alpha-glucosidase deficiency
Infantile Pompe disease presents with severe (cardio) myopathy, hypotonia, respiratory failure, failure to thrive; and if untreated, is fat...
Screening for Pompe disease, alpha-glucosidase deficiency
Infantile Pompe disease presents with severe (cardio) myopathy, hypotonia, respiratory failure, failure to thrive; and if untreated, is fatal in the first year.
Juvenile and adult forms are less severe, presenting with slow progressive muscle weakness and atherosclerosis.
Test Details
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Discipline:
Biochemistry
Biochemistry
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Specimen Container Adult:
EDTA whole blood
OR Blood-spot kit available from specimen reception (Freeman and RVI)
EDTA whole blood
OR Blood-spot kit available from specimen reception (Freeman and RVI)
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Specimen Container Paediatric:
EDTA whole blood
OR Blood-spot kit available from specimen reception (Freeman and RVI)
EDTA whole blood
OR Blood-spot kit available from specimen reception (Freeman and RVI)
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Minimum Volume Adult:
0.5 mL
2 blood spots
0.5 mL
2 blood spots
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Minimum Volume Paediatric:
0.5 mL
2 blood spots
0.5 mL
2 blood spots
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Special Requirement:
Must be posted the same day
Prepare blood spot in the lab following protocol in the Genzyme pack
Must be posted the same day
Prepare blood spot in the lab following protocol in the Genzyme pack
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Transport Requirements:
Post on the same day
Post on the same day
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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: