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ID:222 White Cell Enzymes
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DescriptionThis test measures a panel of lysosomal enzymes for investigating a number of lysosomal storage disorders (but note NOT ALL LSDs are investigated with this panel). The follwing disorders are investigated in the panel: Sandhoff disease, I-cell disease, Beta-Mannosidosis, Tay-Sachs disease, Aspartylglucosaminuria, Sly disease (MPS VI), GM1-gangliosidosis, Alpha-Mannosidosis, Fabry disease, Fucosidosis, Wolman/cholesterol ester storage disease, Metachromatic Leucodystrophy, Gaucher disease, Niemann-Pick types A & B, Krabbe Leucodystrophy, Schindler disease. PLEASE NOTE: If individual disorders are being considered, please write the name of the disorder you wish to investigate.
IndicationInvestigating lysosomal storage disorders.
Additional InfoIf advice is not available locally then the paediatric metabolic consultant on call at the Willink can be contacted through their hospital switchboard on 0161 276 1234. Ask for the paediatric metabolic consultant on call. Please try and collect at least 5 ml EDTA blood for this test. Smaller volumes of blood cause poor quality results and are likely to need a repeat sample. Samples with less than 3ml of blood are insufficient for analysis.
Concurrent Testsna
Dietary Requirementsna

Interpretation

Ref. Range (Male)
Ref. Range (Female)
Ref. Range (Paed)
Ref. Range NotesProvided on report from external laboratory.
Units - Not Defined -


IP Acute TAT4 weeks
IP Routine TAT4 weeks
GP Acute TAT4 weeks
GP Routine TAT4 weeks
Turnround CommentHeather Church / Karen Tylee:Heather.Church@cmft.nhs.uk
Originally edited by : Mick Henderson. Last edited on 26/10/2019 17:29:20. Published By RB on 26/10/2018 17:29:20.