Pseudonyms
AGAL, Trihexosylceramidase, Fabry disease test
Collection Requirements
Preferred - Guthrie card - air dried overnight (Testing is performed on Guthrie Card)
Alternate - EDTA Whole Blood
Tube Colour
GUT, Pink / Purple
Test image(s)
Requires own tube?
No
Department
BiochemistryReference Interval
See report
Availability
Monthly
Reference Laboratory
SA Pathology - Women & Children's Hospital, 4th Floor Rieger Building, King William Road, North Adelaide, SA 5006. tel 08 8161 7483, Fax 08 8161 7484
Fee
AUD $120 not Medicare rebatable
Notes
If EDTA sample is collected, Guthrie Card should be spotted in the laboratory to extend testing time.
Whole blood is not the preferred sample type as it must arrive at the testing laboratory within 48 hours of collection. Sample must be sent as whole blood and not frozen. SA Pathology spot a Guthrie card for analysis if whole blood is received within 48 hours.
Test code: AGAL