Chitotriosidase (Gaucher Disease Biomarker)

Test Description: Gaucher disease (GD) is caused by a deficiency of the lysosomal enzyme, acid beta-glucosidase (glucocerebrosidase, GC). Clinical manifestations in GD are highly variable and cannot be predicted accurately even when a patient’s causative gene mutations are known. Plasma levels of chitotriosidase are markedly elevated in most untreated GD patients. Determination of plasma levels of chitotriosidase has been shown to effectively confirm the diagnosis of GD (particularly when the acid beta-glucosidase levels for a patient under evaluation falls into the inconclusive range), provide early detection of disease onset and, most importantly, provide a measure of “disease activity” (i.e. macrophage activation) that is useful for assessing the effectiveness of enzyme replacement or other therapies. Approximately 6% of the general population (including GD patients) has a recessively inherited deficiency in chitotriosidase. Therefore, when initial level of plasma chitotriosidase is obtained, it is recommended that chitotriosidase genotype also be performed to allow accurate interpretation of the plasma chitotriosidase results.

Specimen Requirements:
1 tube of 5-10 ml of blood in sodium heparin (green top) tube.

Ship whole blood at room temperature. Sample must be received on the day of collection.
If the sample cannot be sent immediately, separate and freeze plasma until shipment and ship frozen on dry ice.

Turnaround Time: 7-10 days

CPT Codes: 80500, 82657x2

Consent Form: Biochemical Consent [PDF]

Requisition Form: General Test Requisition [PDF]

Related Tests: Chitotriosidase DNA