Chitotriosidase

Gaucher disease (Chito)

Chemical Pathology - Enzyme

Assayed in all patients with hepato/splenomegaly. Chitotriosidase is grossly elevated in plasma in Gaucher disease and slightly elevated in some other lysosomal storage disorders (e.g. Niemann Pick A, B and C disease, GM1 gangliosidosis, and Krabbe leukodystrophy)

5 - 10 mL lithium heparin whole blood

Send whole blood at ambient room temperature to reach the lab ideally within 24 hours of collection

4 to 6 weeks

Chitotriosidase, Chito, Gaucher

Yes