Screen for LSDs that cause hepatomegaly +/- splenomegaly. This screen includes sphingomyelinase, beta-galactosidase, beta-glucosidase, acid esterase and alpha-neuraminidase in addition to plasma lysosomal enzymes.
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To request this test please send sample with a request providing patient ID (three identifiers), specimen information, assay required, relevant clinical details and sender information. Before sending sample please read details on requesting and labelling by clicking on the link. Please also refer to any additional information provided for this test.
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Chemical Pathology Reception
Level 1, Camelia Botnar Building
Great Ormond Street Hospital
Great Ormond Street
5-8 ml Lithium Heparin whole blood
see report or contact laboratory
Disease / group
Lysosomal storage disorders
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