Department

Preferred Sample Type

Suitable Specimen Types

EDTA Whole Blood

4 mL EDTA whole blood for enzyme activity. Genetic testing will only be carried if activity is low (4ml EDTA whole blood required for genetic testing)

Specimen Transport

Send to referral laboratory the same day

Sample Processing in Laboratory

orm

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). Genetic testing will only be performed if a patient has a low β-glucosidase activity.

Patient Preparation

Do NOT collect samples on a Friday

Bleep the duty biochemist prior to collecting samples to discuss (bleep 2506, ext 42198)

Notes

Enzyme Levels (BCH) -4ml EDTA whole blood required, this ideally should reach the children’s hospital ideally within 24hrs. These samples MUST NOT be collected on a Friday. Please bleed patients early in the week to enable the lab to have time to isolate the enzyme. Please contact the duty biochemist prior to collecting these samples (bleep 2506, ext 42198)

Genetics (BWH) – 3-5ml EDTA whole blood. The rare disease genomic request form should be used to request this analysis https://bwc.nhs.uk/download.cfm?doc=docm93jijm4n5610. Before they will proceed with genetic testing they require glucocerebrosidase activity levels in suspected males, but not in suspected females. Referrals that don't appear to meet the criteria won't be processed for testing, but DNA will be stored.

Please request these tests using the terminology “Gauchers enzyme testing” and “Gauchers genetics testing”.

Reference Range

Provided by reference laboratory