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ID:956 Pompe Screen (bloodspot)
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DescriptionFirst line screening test for Pompe's disease (alpha-glucosidase deficiency).
Additional InfoThis information describes the sample requirements for the bloodspot screening test for Pompe's disease. This should be the first line test for this disorder. If there is strong clinical suspicion or an abnormal bloodspot screening result, a diagnostic specimen will be required (please refer to alpha-glucosidase entry for these sample requirements).
Concurrent Testsna
Dietary Requirementsna


Ref. Range (Male)7.3 - 39.0
Ref. Range (Female)7.3 - 39.0
Ref. Range (Paed)7.3 - 39.0
Ref. Range Notes
Units - Not Defined -

Other Help:National Laboratory Medicine Handbook

IP Acute TAT- Not Defined -
IP Routine TAT4 weeks
GP Acute TAT- Not Defined -
GP Routine TAT4 weeks
Turnround CommentNA
Originally edited by : Robert Barski. Last edited on 23/06/2016 09:09:29. Published By RB on 23/06/2015 09:09:29.