Chitotriosidase (Chito) for Gaucher Disease/Gaucher DNA Analysis
Clinical Biochemistry
Sample and container requirements
EDTA Whole Blood
Minimum volume required
4 mL whole blood
Special requirements
Informed Consent is required for genetic testing.
Patient preparation
None
Sample viability
Turnaround time
Enzyme testing: 17 days Genetic testing: 35 days
Reference range
N/A
Clinical guidance
Chitotriosidase activity is usually measured as a first line marker of Gaucher disease in adults. Please refer to referral lab information and handbook for more information: https://bwc.nhs.uk/our-pathology-services/ https://bwc.nhs.uk/metabolic-genomic-testing/
Notes
Samples for enzyme testing sent to Birmingham Children's Hospital Samples for genetic testing sent to Birmingham Women’s Hospital
Images to go here
This information was last updated on 19 August 2026