Wilson disease (ATP7B)

Clinical Presentation

Wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging in age from 3yrs to over 50yrs.

Symptoms can include: chronic liver disease, jaundice, cirrhosis, Kayser-Fleischer rings, dysarthria, poor co-ordination, renal problems, haemolysis.

Biochemical diagnosis depends upon the detection of low serum copper and ceruloplasmin concentrations and increased urinary copper.

Indications for Testing

Diagnostic testing to confirm a clinical/biochemical diagnosis of Wilson disease.

Testing in relatives of an affected individual for clinical management and genetic counselling. These referrals require that pathogenic mutations have been identified in the index case.


Sequencing of the protein-coding region is expected to detect >99% of disease alleles.

In very rare cases, sequencing of the promoter region and testing for exon deletions/duplications may be appropriate.

ATP7B gene sequencing

Test details

Bi-directional DNA Sequencing of ATP7B exons 1-21 (entire coding region).

Specimen Requirements

  • Venous blood (2-5ml K-EDTA, not to be frozen prior to or during transport)   
  • Genomic DNA (approximately 5μg)
  • Specimen containers and referral forms must be labelled with at least two corresponding unique identifiers.

Turnaround time

Approximately 8 weeks (40 working day days)*

* Estimated reporting time from receipt of sample. A priority service may be available for urgent referrals at an additional cost, please contact the laboratory for further information.

Patient Consent

Referrals must generally be made from the Clinical Genetics services or appropriate clinical specialist. Please contact the laboratory if this is not possible. It is assumed that informed consent for genetic testing has been obtained from the patient or their parent/guardian and that the implications of a positive result for other family members have been discussed.

Wilson Disease Diagnostic Test

Wilsondisease Diagnostic Test


Transactional website goes live offering specialist genetic testing


First tests to go live are Glycogen Storage Disease Next Generation Sequencing Panels: Liver, Metabolic Myopathies / Rhabdomyolysis & Wilson Disease. 

Keep a look out for more tests added soon!