Someone reported something new: Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e…

A source describes a new or expanded observation: “Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e.g. consanguinity, a striking syndromic phenotype, and multiple affected relatives), then consider referral pathways that support gene discovery efforts (see Tip #9).”