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

Casandra

Casandra Test Code MC49942Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID WNDZCPT Code 81406

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

For prenatal specimens (amniotic fluid, chorionic villi), reflex culture and maternal cell contamination testing are performed at additional charge. For skin biopsy or cultured fibroblast specimens, fibroblast culture is performed at additional charge; non‑viable cells trigger notification. Cord blood with maternal sample triggers maternal cell contamination studies at additional charge. New York clients require informed consent and specific forms (T576, T826). Forms also include patient information and test requisition forms (T527, T728, T798).

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