Figure 2. . Concept map for genetic/genomic diagnostic testing developed by the Cincinnati team.

Starting from white boxes around the outside, each case presents options for different types of testing, with the appropriate type of test indicated with a line. Short videos are presented describing the usefulness and limitations of the type of testing, as well as other basic concepts like inheritance, nomenclature and cascade testing.

del: Deletion; dup: Duplication; WES: Whole-exome sequencing; WGS: Whole-genome sequencing.