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ID:955 Fabry Screen (bloodspot)
Search Links: General Info : Protocols : Patient Info

DescriptionFirst line screening test for Fabry's disease (alpha-galactosidase deficiency).
IndicationIf Fabry's disease is suspected/needs to be ruled out.
Additional InfoThis information describes the sample requirements for the bloodspot screening test for Fabry'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 White Cell Enzyme entry for these sample requirements).
Concurrent Testsna
Dietary Requirementsna


Ref. Range (Male)6.3 - 47
Ref. Range (Female)6.3 - 47
Ref. Range (Paed)6.3 - 47
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 09:08:12. Published By on 23/06/2015 09:08:12.