Use

ExomeDx™ standard exome sequencing targets the protein‑coding regions (~20,000 genes) most commonly associated with genetic disease and is recommended as a first‑line test for individuals with unexplained developmental delay, epilepsy, congenital anomalies, or multisystem involvement. It provides enhanced diagnostic yield compared to gene panels and chromosomal microarrays by detecting SNVs, indels, splice‑site variants, small intronic variants near exons, exon‑level copy‑number variants, and—with add‑on—mitochondrial SNVs and deletions (ExomeDx™ + mito).