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ID:388 Chitotriosidase
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DescriptionMarker for some lysosomal storage disorders, can be used for monitoring Gaucher patients on treatment
IndicationConfimation of the diagnosis of Gauchers disease, predictive indicator for clinical improvement upon enzyme therapy
Additional InfoGaucher disease is a deficiency in the enzyme glucocerebrosidase, which degrades the natural lipid glucocerebroside. Macrophages become lipid laden and are know as Gaucher cells. The origin of chitotriosidase is thought to be Gaucher cells.
Concurrent Testsna
Dietary Requirementsna
InterpretationDramatically elevated in Gaucher's patients - >100 fold increase

DepartmentBiochemistry
SampleBlood
TubeEDTA (Haem)
Tube Picture
Collection Conditions
Min. Vol2 mL
Freq.Referred to external laboratory

Ref. Range (Male) 42
Ref. Range (Female)
Ref. Range (Paed)
Ref. Range Notes4-120 umol/l/h.
Unitsumol/L/24h
IP Acute TAT2 weeks
IP Routine TAT2 weeks
GP Acute TAT2 weeks
GP Routine TAT2 weeks
Turnround CommentHeather Church / Karen Tylee:Heather.Church@cmft.nhs.uk

Originally edited by : Robert Barski. Review due on 22/11/2018 10:13:49. Published By on 22/11/2017 10:13:49.