Wilson Disease / Hepatolenticular Degeneration via the ATP7B Gene

Clinical Use

Use

This test is designed for individuals who have clinical features or a suspected diagnosis of Wilson disease. It may also be of use to reproductive partners of individuals with a known pathogenic variant in the ATP7B gene, aiding in family planning and variant confirmation.

Special Instructions

Not provided.

Limitations

The test does not detect all possible mutations in the ATP7B gene. It primarily focuses on known pathogenic variants and may not identify novel alterations or those present in non-coding regions. False negatives or ambiguous findings can occur if the genetic mutation is rare or not covered by the genomic panel used.

Test Details