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Alpha Glucosidase

About This Test

Department: Biochemistry (referred)

Requirement:

EDTA (purple top)

 

Turnaround Time: 6 - 8 weeks

Background:

Investigation of Pompe disease

For screening, 1 mL blood is required

 For confirmation of a positive screen, 5 mL blood is required, which must reach the referral laboratory within 48 hours.

Other Comments:

Analysed at Willink Biochemical Genetics Laboratory, Genomic Diagnostics Laboratories, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, 6th Floor, Pod 1, St Mary's Hospital, Oxford Road, Manchester, M13 9WL

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Interpretive comment provided by referral laboratory.