Marker for some lysosomal storage disorders. Can be used for the confirmation of the diagnosis of Gaucher’s disease, monitoring Gaucher’s patients on treatment, or as a predictive indicator for clinical improvement upon enzyme therapy. Chitotriosidase is elevated > 100 fold in patients with Gaucher’s disease.
Tube
03 (EB) – EDTA Blood
ID
Tests&Tubes0167
Additional Information
Gaucher 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.
Turn Around
Turnaround time stated by the Willink lab: 2 weeks.
Send to
Blood Sciences LGI
(Test referred to: the Willink laboratory)
Manchester.
Contact
For further details please contact Leeds Pathology customer services: [email protected].
Advice
Full Referred Test details logged internally on the referred test database [BSF2REC17003]
http://leedspath.myeqms.com/Administrator/LoadDocADM.asp?ID=82998&Ext=True&CCID=1
Collection Con
Minimum Volume: 2 ml EDTA whole blood. Collect Mon – Weds only. **Instructions to lab**: Do not centrifuge. Store whole blood sample in fridge. Must reach the Willink lab within 72h of sample collection
Sample REQ
Blood
Ref. Range Notes
4 to 120 nmol/ml/h
Units
nmol/mL/h