Use

Targeted Mosaic Variant Testing is intended to evaluate for mosaicism for a known familial variant previously identified in an individual or family member. Clinical scenarios include clarifying reproductive risk in parents when a variant is identified in a child, testing a parent suspected to be mosaic due to mild or tissue‑specific features, assessing tissue‑specific mosaicism in a proband, and confirming suspected mosaic findings identified in research. This targeted testing applies to sequence variants (excluding CNVs).