Diagnosis
A definitive diagnosis of Gaucher disease is established by:
- Glucocerebrosidase enzyme assay: demonstrating deficiency1
- GBA gene sequencing: demonstrating 2 pathogenic variants in trans (one from each parent). Though identification of pathogenic alleles is not required for diagnosis, it can provide secondary confirmation and important information related to phenotype
- Six pathogenic variants account for the majority (97%) of all pathogenic alleles in patients of Ashkenazi Jewish heritage2
Gaucher disease has a wide phenotypic spectrum ranging from severe neuronopathic forms to
chronic visceral forms, with a chronic neurovisceral form between these two ends of the spectrum.3,4 Gaucher disease presents with: anemia, thrombocytopenia, splenomegaly, and bone involvement due
to displacement of normal marrow cells with disease-affected cells resulting in bone pain, osteopenia, and growth retardation in children.3,4
![](/dam/jcr:6c96ab8c-bd09-4458-9e65-822a103cc86a/ui-thumbnail-Fabry-Diagnosis.png)
New to molecular testing?
This short video provides general education on molecular testing for healthcare providers who are unfamiliar with the process.
![](/dam/jcr:39eb92be-0ad7-4714-9267-e06158695c1f/ui-thumbnail-gaucher-aspho@3x.png 252w)
For more information on diagnosing Gaucher disease, including a list of labs offering GBA gene sequencing or glucocerebrosidase enzyme activity assay, watch this short video.
Biomarker: Glucosylsphingosine (lyso-GL-1)
Glucosylsphingosine (lyso-GL-1) is the deacylated form of glucosylceramide (GL-1). Both lyso-GL-1 and
GL-1 accumulate in Gaucher disease as a direct result of acid β-glucosidase deficiency, making lyso-GL-1
a highly specific biomarker.
![](/.imaging/webp/sanofi-platform/img-w400/dam/rare-diseases-com/rare-diseases/mps-I/diagnosis/fabry-symptoms-3x.png/jcr:content/fabry-symptoms@3x.png 400w, /.imaging/webp/sanofi-platform/img-w500/dam/rare-diseases-com/rare-diseases/mps-I/diagnosis/fabry-symptoms-3x.png/jcr:content/fabry-symptoms@3x.png 500w, /.imaging/webp/sanofi-platform/img-w600/dam/rare-diseases-com/rare-diseases/mps-I/diagnosis/fabry-symptoms-3x.png/jcr:content/fabry-symptoms@3x.png 600w, /.imaging/webp/sanofi-platform/img-w700/dam/rare-diseases-com/rare-diseases/mps-I/diagnosis/fabry-symptoms-3x.png/jcr:content/fabry-symptoms@3x.png 700w, /.imaging/webp/sanofi-platform/img-w800/dam/rare-diseases-com/rare-diseases/mps-I/diagnosis/fabry-symptoms-3x.png/jcr:content/fabry-symptoms@3x.png 800w, /.imaging/webp/sanofi-platform/img-w900/dam/rare-diseases-com/rare-diseases/mps-I/diagnosis/fabry-symptoms-3x.png/jcr:content/fabry-symptoms@3x.png 900w, /.imaging/webp/sanofi-platform/img-w1200/dam/rare-diseases-com/rare-diseases/mps-I/diagnosis/fabry-symptoms-3x.png/jcr:content/fabry-symptoms@3x.png 1200w)
Pandey MK, Grabowski GA, Kohl J. Semin Immunol. 2018 June;37:30–42.
![](/dam/jcr:f08dfe8a-3baa-4ec3-8f37-8379817ceb81/ui-thumbnail-gaucher-helix@3x.png 252w)
To read more about lyso-GL-1, including testing options.
References:
1. Mistry PK, et al. Am J Hematol. 2011;86(1):110–5. 2. Bronstein S, et al. Isr Med Assoc J. 2014;16(11):683–685. 3. Baris HN, et al. Pediatr Endocrinal Rev. 2014;12 Suppl 1 (01):72–81.
4. McGovern MM, et al. Orphanet J Rare Dis. 2017;12(1):41.
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