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ID:956 Pompe Screen (bloodspot)
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DescriptionFirst line screening test for Pompe's disease (alpha-glucosidase deficiency).
Indication
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
Interpretation

DepartmentBlood Sciences
SampleBlood spots - neonatal
TubeGuthrie Card
Tube Picture
Collection ConditionsLab staff - please DO NOT reject whole blood samples. See lab section for further information.
Min. Vol1 bloodspot
Freq.

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 -
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. Review due on 23/06/2016 09:09:29. Published By RB on 23/06/2015 09:09:29.