Chitotriosidase
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: leedsth-tr.pathologycustomerservice@nhs.net. |
| 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 – 120 nmol/ml/h |
| Units | nmol/mL/h |
| Telepath | CHIT1R & SA1R |
