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

IllnessMorbus Wilson


Short information

Curated single gene sequence analysis according to the clinical suspicion Morbus Wilson

Number of genes
1 Accredited laboratory test
Examined sequence length
4,4 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

Wilson disease (hepatolenticular degeneration) leads to excess copper deposition in the body and primarily affects the liver and basal ganglia. In addition to liver-related symptoms, motor and speech disorders and personality changes, including hallucinations, may also occur lateron. Most patients develop liver dysfunction by the age of 10, rarely haemolytic anaemia. Lateron osseo-muscular manifestations develop due to excessive copper deposition. The neuropsychiatric features appear in the 3rd/4th decade; if left untreated the condition is fatal. Wilson's disease is inherited autosomal recessively by mutations in the ATP7B gene, 98% of which can be detected by DNA sequencing, the rest by deletion/duplication analysis. Individual mutations show reduced penetrance. An inconspicuous genetic finding practically rules out the suspected clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1512/


  • Alias: Hepatolenticular degeneration, copper storage disease (ATP7B)
  • Alias: Wilson disease (ATP7B)
Heredity, heredity patterns etc.
  • AR
ICD10 Code

Bioinformatics and clinical interpretation

No text defined