Definition

The Wilson disease panel is an NGS panel that jointly screens the ATP7B gene and additional genes associated with copper metabolism disorders that can phenotypically overlap. ATP7B encodes the P-type ATPase responsible for copper transport in hepatocytes; biallelic pathogenic variants in this gene lead to copper accumulation presenting with hepatic, neurological, and psychiatric findings. The panel approach facilitates the differential diagnosis of other metabolic liver diseases that can clinically mimic Wilson disease.

Gene/region examined

ATP7A, ATP7B

Method

Next Generation Sequencing, CNV Analysis

Accepted sample types

EDTA Blood

Inheritance

Hereditary, autosomal recessive (ATP7B); the panel approach can also cover additional genes for differential diagnosis.

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

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Carrier (Heterozygous / Homozygous)

Why it matters: In autosomal recessive inheritance, when each parent is a carrier (while both appear healthy), the chance of their child being born with the disease is 25% in each

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VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

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How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

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Types of Genetic Tests

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

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