Gaucher Disease


Gaucher disease is an autosomal recessive lipid storage disorder caused by a deficiency of the lysosomal enzyme glucocerebrosidase. This deficiency results in the accumulation of glucocerebroside. Gaucher disease is a multisystemic disorder characterised by haematological disorders, hepatosplenomegaly, and skeletal disease, and, in more severe forms, neurological deterioration. There is a broad spectrum of disease severity but this can be divided into 3 disease sub-types according to disease symptoms. • Non-neuronopathic (Type I) Gaucher Disease – characterised by anaemia, hepatosplenomegaly and bone disease but without neurological symptoms. • Acute neuronopathic (Type II) Gaucher Disease – these patients show profound brain impairment and usually die before the age of 2 years. • Chronic neuronopathic (Type III) Gaucher disease – characterised by anaemia, massive hepatosplenomegaly, bone disease and neurological symptoms such as horizontal supranuclear gaze palsy. Gaucher disease is caused by mutations in the GBA gene, which encodes for the enzyme glucocerebrosidase. GBA is located on chromosome 1q21. A number of common mutations exist, particularly in the Ashkenazi Jewish population, but many are unique to the family and include a variety of point mutations, deletions, and splice junction defects. There is a highly homologous pseudogene which is situated 16Kb downstream from the functional gene. Rearrangements between the functional and the pseudogene can also introduce mutations.

Referral information

This service is funded by the National Commissioning Group (NCG). Samples received from England, Northern Ireland and Scotland are charged to NCG with the majority of samples being received from The Willink Metabolic Unit. New patients are initially diagnosed by enzyme analysis, therefore patients will usually have already been referred to a relevant NCG centre before DNA analysis is requested. Funding from the NCG also covers carrier detection, by DNA analysis, for family members.

Price & reporting times

Test Price NHS (£) Price non- NHS (£ ) TRT (calendar days)
Mutation scanning POA POA 56
Single mutation test POA POA 28
Urgent/Predictive single mutation test POA POA 14

Test validation & quality assurance - information for users

The Ashkenazi Jewish common mutation screen accounts for ~92% of the GBA mutations seen in this population. The Caucasian common mutation screen accounts for ~70% of the GBA mutations seen in the Caucasian population.

The laboratory is UKAS assessed against ISO 15189 standards.

Sample requirements

5ml EDTA blood sample

Referral guidelines

Please see our referral guidelines for more information.

OMIM Number(s) - 230800

Gene(s) - GBA