Use

ExomeDx Proband is a standard clinical exome sequencing test designed for patients with suspected genetic conditions, including developmental delay, congenital anomalies, epilepsy, or unexplained multisystem involvement. It targets protein‑coding regions (~20,000 genes) where most pathogenic variants occur, enabling detection of SNVs, indels, splice‑site variants, and small intronic variants, as well as exon‑level copy‑number variants. Trio or duo testing (not part of this proband‑only test) can enhance interpretive confidence. The test leverages GeneDx’s proprietary capture system, the Illumina sequencing platform, and CNV calling for comprehensive variant detection. Clinical relevance includes enabling diagnosis in patients with complex phenotypes where targeted panels or CMA may not suffice.