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

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

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

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