Hereditary Wilms Tumor Panel

Clinical Use

Use

This test utilizes next‑generation sequencing to detect single nucleotide and copy number variants in 9 genes associated with hereditary Wilms tumor: BLM, BUB1B, CDC73, DIS3L2, GPC3, REST, TP53, TRIP13, and WT1. Identification of a disease‑causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for hereditary causes of Wilms tumor. Approximately 10% to 15% of individuals with Wilms tumor have a genetic etiology that can be identified; detection of a variant in WT1 is most common. Hereditary predisposition testing is clinically useful to determine molecular etiology and assess risk in families.

Special Instructions

Not provided.

Limitations

Next‑generation sequencing may not detect all genomic variant types; false‑negative or false‑positive results can occur. Depth of coverage may vary; assay performance below criteria or failed regions will be noted. Negative results do not rule out diagnosis; alternate methods may be considered if clinically suspected. Some regions cannot be effectively evaluated because of homology, high GC content, or repetitive sequences. Deletion/duplication analysis may lack single‑exon resolution in some cases; balanced structural rearrangements may not be detected. The test is not designed to detect low‑level mosaicism or distinguish somatic versus germline variants. Allogeneic transplant or recent transfusion may yield inaccurate results due to donor DNA. Variant reclassification is not systematically performed; providers are encouraged to inquire about changes. Variant evaluation follows ACMG/AMP guidelines.

Test Details

New York Approved