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 (attention Chris Leaver)
Some female heterozygotes may have normal but low alpha-galactosidase A activity. In this case recommend clinical correlation and testing plasma Lyso-GB3 as a second tier test before proceeding with molecular analysis.
For GLA mutation analysis also collect EDTA
Specimen Collection Protocols In lab apply 100uL to each Guthrie spot, dry at room temperature. Place in paper envelope, NOT plastic.
Dried blood spots on Guthrie card the preferred sample for Pompe disease and alpha-galactosidase testing – blood is stable on card once dried at room temperature .
Attention Chris Leaver
Send in a paper envelope (not plastic specimen bag)
Ambient (8 - 24 degrees Celsius)
Tandem Mass Spectrometry
$444.26 (Exclusive of GST)
Referred to SA Pathology, Adelaide Women's and Children's Hospital
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