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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessMorbus Gaucher


Short information

Curated single gene sequence analysis according to clinical suspicion Morbus Gaucher

Number of genes
1 Accredited laboratory test
Examined sequence length
1,7 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity

Informations about the disease

Clinical Comment

Gaucher disease patients do not produce enough glucocerebrosidase, so glucocerebrosides accumulate in so-called Gaucher cells in the liver, spleen, lungs and bone marrow. Bone damage can be particularly painful; in rare cases Gaucher cells can also accumulate in the brain and lead to the more severe form of the disease. Three forms of Gaucher disease are distinguished. Type 1 is the most common form in the western world (90%), usually with a normal lifespan. Symptoms can start at any age with anaemia, bruising, bleeding, pain and growth disturbances. Type 2 disease is very rare and characterised by damage to the central nervous system, which is usually fatal in the first two to four years of life. Although type 2 occurs worldwide, it is very rare. Type 3 is rare in the West, more common in Asia and in a province of Sweden. In this type, the neurological symptoms develop slowly, usually in childhood, and continue into adulthood. Gaucher disease is transmitted autosomal recessively. Virtually all sequence changes in the GBA gene are point mutations that can be fully detected.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1269/


  • Alias: Acid beta-glucosidase deficiency (GBA1)
  • Alias: Cerebroside lipidosis syndrome (GBA1)
  • Alias: Gaucher Krankheit (GBA1)
  • Alias: Gaucher splenomegaly (GBA1)
  • Alias: Gaucher syndrome (GBA1)
  • Alias: Gaucher's disease (GBA1)
  • Alias: Gauchers disease (GBA1)
  • Alias: Glucocerebrosidase deficiency (GBA1)
  • Alias: Glucocerebrosidosis (GBA1)
  • Alias: Glucosyl cerebroside lipidosis (GBA1)
  • Alias: Glucosylceramidase deficiency (GBA1)
  • Alias: Glucosylceramide beta-glucosidase deficiency (GBA1)
  • Alias: Glucosylceramide lipidosis (GBA1)
  • Alias: Kerasin histiocytosis (GBA1)
  • Alias: Kerasin lipoidosis (GBA1)
  • Alias: Kerasin thesaurismosis (GBA1)
  • Alias: Lipoid histiocytosis, kerasin type (GBA1)
  • Alias: Lysosomal storage disorder, deficient activity of beta-glucocerebrosidase
  • Gaucher disease, perinatal lethal (GBA1)
  • Gaucher disease, type I (GBA1)
  • Gaucher disease, type II (GBA1)
  • Gaucher disease, type III (GBA1)
  • Gaucher disease, type IIIC (GBA1)
Heredity, heredity patterns etc.
  • AR
ICD10 Code

Bioinformatics and clinical interpretation

No text defined