Wilson Disease, ATP7B Full Gene Sequencing with Deletion/Duplication, Varies

Clinical Use

Use

This test utilizes next-generation sequencing to detect single nucleotide, deletion‑insertion, and copy number variants in the ATP7B gene associated with Wilson disease. Identification of a disease‑causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for Wilson disease.

Special Instructions

Not provided.

Limitations

Next‑generation sequencing may not detect all variant types; low depth regions or failed regions are noted. Negative results do not rule out diagnosis. Some gene regions may be difficult to evaluate due to homology, high GC content, or repetitive sequences. The test is not designed to detect low‑level mosaicism or distinguish somatic versus germline variants. CNV/deletion‑duplication resolution may miss single‑exon events; balanced rearrangements may not be detected. Validation detects ~95% of deletions up to 75 bp and insertions up to 47 bp; larger delins (>40 bp) less reliably detected. Allogeneic transplant or recent transfusion may interfere with results. Variants classified per ACMG/AMP guidelines; benign variants are not reported; in silico tool predictions are interpretive and may change over time. Variant reclassification is not automatic; updated variant classification may require provider inquiry.

Test Details

New York Approved