Assay

Gaucher’s Disease

Key Words

Leucocyte β-glucocerebrosidase Activity, Plasma Chitriosidase Activity, Gaucher's disease

Specimen Collection

2 x 6ml-10ml EDTA (large EDTA)

Referral

This test is referred to another centre for analysis: 

Willink Biochemical Genetics Laboratory

6th Floor, Pod 1

Saintt Mary's Hospital

Oxford Road

Manchester

M13 9WL

turnaround time

14 days from receipt at reference laboratory for enzyme investigations

28 days from receipt at reference laboratory for genetic investigations

Test indications

Splenomegaly, thrombocytopaenia and raised ferritin, to exclude Gaucher’s Disease

Interferences

Contact referral laboratory for information

Reference Range

Contact referral laboratory for information

Minimum retesting interval

N/A