VPS13A and Choreoacanthocytosis: ChAc is a recessive condition caused by mutations in VPS13A. Direct Sanger sequencing of PCR‐amplified DNA fragments covering all exons of the main transcript variant is the default approach used so far for the identification of changes in this gene in most reported cases when ChAc diagnosis is suspected (Dobson‐Stone et al., 2002; Rampoldi et al., 2001; Tomiyasu et al., 2011; Ueno et al., 2001), although there have been also a few examples studied with next‐generation sequencing (NGS) approaches (Chen et al., 2013; Walker et al., 2012; Walker et al., 2018; Weber et al., 2019).