Guthrie card (minimum 2 spots, 4 spots preferred), apply 100uL blood to each Guthrie spot. Dry at room temperature.
If sending whole blood (EDTA), the sample must arrive at the laboratory within 48 hours of collection (Monday – Friday, excluding public holidays). Staff will apply blood to the Guthrie card and dry at room temperature before sending to third party laboratory for testing. Sample must not be frozen. Do NOT centrifuge.
If sending a Guthrie card, ensure bloodspots are dried before sending to the laboratory. Blood is stable on the Guthrie card once dried at room temperature. Place in paper (NOT plastic) envelope.
The first-tier test for initial diagnosis for all Fabry requests is alpha galactosidase activity. State clearly on form: for enzymatic diagnosis of Fabry's Disease.
Some female heterozygotes may have normal / low alpha-galactosidase A activity. In this case clinical correlation is recommended and testing plasma Lyso-GB3 as a second-tier test before proceeding with molecular analysis.
For GLA mutation analysis see Single Gene Tests (Germline)
Turnaround Time: Between 6 weeks and 8 weeks.