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Gaucher Disease (Whole Blood)

Alias: Glucocerebrosidase

Discipline: Clinical Chemistry

Test information: Gaucher disease is an inherited disorder that affects many of the body's organs and tissues i.e Enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, arthritis, abnormal eye movements, seizures, and brain damage, dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems.

Specimen Type(s)
  • Blood;
Other Acceptable Specimen Type(s)
Specimen Container - Adult
  • Purple Top BD;
Specimen Container - Paediatric
  • Lilac Top Microtainer BD;
  • N/A;
Part of a test profile?
Volume (min) of sample to be sent to laboratory
Adult- One FULL EDTA (4ml), Paed min 3 ml
Patient Preparation, Sample Handling and Transport
Sample taken anytime during the day Monday to Wednesday, or before midday on Thursday, and immediately hand delivered to Clinical Chemistry.
Maximum add on time
Units and Reference Ranges / Interpretation
Please see the report.
UKAS number
UKAS accredited test?

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Last updated: 25-07-2023