Description
Multiple lysosomal hydrolases in plasma
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.
Additional information
This includes plasma I cell screen (ML II), alpha-mannosidase, beta-mannosidase, beta-glucuronidase, alpha-fucosidase, chitotriosidase, alpha-N-acetylgalactosaminidase, total beta-hexosaminidase and beta-hexosaminicase A. Included in neurological screen
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 ml blood in lithium Heparin blood received at room temperature within 24 hours of phlebotomy or 2 ml of frozen plasma.
Reference range
see report or contact laboratory
Turnaround time
42 days
Disease / group
Mucolipidosis, I-Cell disease, Lysosomal storage disorder
Cost
Upon request
Call in advance?
Not required