Description
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.
Request a test
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.
Sending address
Chemical Pathology Reception
Level 1, Camelia Botnar Building
Great Ormond Street Hospital
Great Ormond Street
London
WC1N 3JH
Laboratory service
Chemical Pathology
Sample requirements
5-8 ml Lithium Heparin whole blood received at ambient temperature within 24 hours of phlebotomy.
Reference range
see report or contact laboratory
Turnaround time
6 weeks
Disease / group
Lysosomal storage disorders
Cost
Upon request
Call in advance?
Not required