Copper, Liver

Diagnostic Use

Measurement of hepatic copper concentration is useful for the diagnosis of Wilson disease when initial biochemical testing is inconclusive. Wilson disease is an autosomal recessive disorder of copper metabolism caused by variants in the ATP7B gene, resulting in copper deposition in the liver and other organs if untreated. Patients may have evidence of Kayser-Fleischer rings, elevated 24-hour urinary copper excretion, and/or low ceruloplasmin. Clinical presentation can include unexplained liver biochemical abnormalities, neurologic symptoms, and psychiatric symptoms.

Department

Lipids/Trace Metals

Delphic Registration Code

LV

Laboratory Handling

Registration

Fresh or dried, frozen unfixed samples ONLY accepted for Liver copper analysis. No paraffin blocks

Separating

Please store in the freezer on arrival at the laboratory, to Lipids / Trace Metals- Freezer

Laboratory

Please store in the freezer on arrival at the laboratory

Test Adds

Not applicable, for this sample type.

Synonyms

Liver Copper

Turnaround Time

4 weeks

Test Code

4263

Specimen Type

• Biopsy

Specimen Requirements

Tube/Container Type:

Preferred

• Pottle

Additional Specimen Information

Two mg of liver tissue are required. This is typically a piece of tissue from a 22-gauge needle biopsy at least 2 cm long. If an 18-gauge needle is used, the tissue must be at least 1 cm in length.
Specimen Volume: 2 mg
After biopsy should immediately be placed on a 5cm square of aluminium foil. The foil is then folded like an envelope and placed in a urine pottle for transport to the laboratory.
On receipt in your laboratory the aluminium foil should be slightly opened and dried at 37oC for 24 hours. After drying the foil should be tightly closed and may be sellotaped to the referral letter or request form. Drying of the sample will prevent bacterial growth and protect the liver sample from contamination by environmental iron and copper. (Alternatively the sample in aluminium foil should be frozen and sent to the Laboratory on ice).
Brief clinical details should be included plus ferritin, iron and %saturation levels in cases of suspected haemochromatosis.

Aliquot Instructions

Transport to Lab

Frozen

Additional Referral/Aliquot Information

Dry overnight at 37°C or freezer - 20°C. Minimum 2.0 mg dried weight.

Interpretation

Hepatic copper concentration >250ug/g dry tissue is associated with untreated Wilson disease. Lesser elevations of hepatic copper are found in cholestatic liver disease. In patients with elevated hepatic copper concentration without supporting histology and other biochemical test results, contamination during collection, handling, or processing should be considered.

Reference Intervals

0 – 50 ug/g dry tissue

Test Method

ICP-MS

Non-Funded Test Cost

$132.66 (Exclusive of GST)

Billing Code

4269

Contact Information

Enquiry Form

Contact Information

Enquiry Form