Pompe Testing (A-Glucosidase, Acid Maltase Deficiency, Alpha-1, 4-Glucosidase, Alpha-Glucosidase, GAA Enzyme Activity), Whole Blood/Guthrie Card

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  4. Pompe Testing (A-Glucosidase, Acid Maltase Deficiency, Alpha-1, 4-Glucosidase, Alpha-Glucosidase, GAA Enzyme Activity), Whole Blood/Guthrie Card
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Diagnostic Use

For diagnosis of Pompe disease. Pompe disease is a lysosomal storage disorder with a varied phenotype. The severe form (Infantile Pompe Disease) is characterised by severe cardiac and skeletal myopathy in infants.
The adult form (late onset Pompe Disease) is characterised by slow progressive myopathy affecting proximal muscles, spinal muscles, and the diaphragm. Cardiac disease is not usually present.
CK levels in both forms may be mild to moderately elevated.
State clearly on form: “for enzymatic diagnoses of Pompe Disease. Attn Specialist Bio – Paediatrics

Department

Specialist Biochemistry

Delphic Registration Code

SENB

Laboratory Handling

Phlebotomy

Guthrie card blood spot - minimum 3 spots (preferred). EDTA blood (lavender top) – 4mL (alternative – see additional information section)

Registration

Guthrie card blood spot, dry at room temperature. Place in a paper envelope NOT a plastic sample bag.

Separating

Send to Specialist Biochemistry

Synonyms

A-Glucosidase
Acid maltase deficiency
Alpha-1,4-Glucosidase
Alpha-Glucosidase
GAA enzyme activity

Turnaround Time

8 weeks