Gaucher Disease (Whole Blood)

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)

N/A

Specimen Container - Adult

• Purple Top BD;

Specimen Container - Paediatric

• Lilac Top Microtainer BD;

Analytes

• N/A;

Part of a test profile?

No

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

N/A

Units and Reference Ranges / Interpretation

Please see the report.

UKAS number

9865

UKAS accredited test?

Yes

Comments

N/A

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