Referred Work

Preferred Sample Type

Gaucher Disease (Glucocerebrosidase)

Suitable Specimen Types

  • EDTA Whole Blood
2 x 4 mL EDTA whole blood

Specimen Transport

Send to referral laboratory the next working day.

Sample Processing in Laboratory

Place into transport box provided by referral laboratory and complete form

Sample Preparation

Do not freeze sample

Sample Stability

Stable at 4oC

Gaucher Disease (Glucocerebrosidase)

General Information

Gaucher's (also known as Gaucher) disease is a lysosomal storage disease in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. 

The overall prevalance of Gaucher disease is 1 in 40,000 to 1 in 50.000 live births however prevalance increases in certain populations (e.g. Type 1 may affect 1 in 850 Ashkenazi Jews).

There are 3 forms of Gaucher disease with Type 1 accounting for 92% of diagnosed cases. Type 1 Gaucher may present in childhood or adulthood with clinical signs/symptoms including:

Thrombocytopenia and anaemia
Chronic bone / joint pain
Splenomegaly / hepatosplenomegaly
Abdominal pain
Easy bruising, fatigue and growth retardation

Type 3 is the most mild form of the disease which may present with CNS involvement. Type 2 is the most severe which is rapidly progressive in infancy.

Differential diagnosis includes leukaemia, Immune thrombocytopenic purpura, autoimmune diease, viral disease, multiple myeloma, lymphoma and idiopathic avascular necrosis.

Biochemical diagnosis is via measurement of the enzyme glucocerebrosidase (also known as acid beta glucosidase / leucocyte β-glucosidase).


Patient Preparation

Consent for genetic testing must be obtained and indicated on the request form that accompanies the blood samples


If possible please avoid collecting samples on a Friday - delays in sending them onto the referral laboratory may compromise sample integrity making them unsuitable for analysis.


Samples received in the laboratory without consent indicated on the form will be sent for the enzyme level only.

Reference Range

Provided by reference laboratory

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The Trust Laboratories at Heartlands Hospital, Good Hope Hospital and Solihull Hospital were awarded UKAS (United Kingdom Accreditation Service) accreditation to the internationally recognised ISO 15189 standard in May 2015. For a list of accredited tests and other information please visit the test database
Tests not appearing on this scope are either under consideration or in the process of accreditation and so currently remain outside of our scope of accreditation. However, these tests have been validated to the same high standard as accredited tests and are performed by the same trained and competent staff.

For further information contact Louise Fallon, Quality Manager, 0121 424 1235