Gaucher’s Disease

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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)

Turnaround time

This test is referred to another centre for analysis: 

Royal Free Hospital NHS Trust

Lysosomal Storage Disease Unit

Molecular laboratory

Haematology Department

Pond Street

London

NW3 2PX

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