Wilson disease (genetic testing)

National Genomic Test Directory reference: R172 Wilson disease

May be requested by specialists in: Clinical Genetics, Hepatology, Metabolic Medicine, Neurology, Psychiatry, Paediatrics. _{(Source: National Genomic Test Directory. Testing Criteria for Rare and Inherited Disease, v7 July 2024})

Alternative names, keywords

Samples required

2x EDTA blood (purple cap/ yellow cap ring, 4 mL tube). Smaller tubes are available for paediatric samples.

5 - 10 mL whole blood required. 1-2 mL is acceptable for paediatric cases.

Tested by South East Genomic Laboratory Hub. Specimen will not be accepted by referral lab unless correctly labelled and accompanied by a fully completed request form. Please download a copy of the correct form here.

If you are sending an electronic request form direct to one of the genetics provider labs, please note a paper copy is still required with the sample so that handling laboratories can process it correctly.

All genetic testing requires consent. It is the responsibility of the referring clinician to obtain appropriate consent from the patient for genetic testing. This should be saved in local patient records and does not need to be sent with the request form. The SE-GLH Record of Discussion form can be downloaded alongside the relevant request form.

Test indications

Investigation of suspected Wilson's disease, abnormalities of copper metabolism. For full eligibility criteria see National Genomic Test Directory.

Click here for plasma copper investigations

Reference range

See report. Please note results are returned direct to requesting clinician and not via laboratory.

Turnaround time

See referral laboratory's information.

Enquiries

Biochemistry (Referrals)