Fig. 1. Outcome of genetic clinic visit in 65 patients referred for genetic evaluation.

See Table 1. Forty-three patients were tested and of those tested, 58% had a genetic diagnosis established (tested positive). Actual numbers and percentages (in parentheses) for each category are shown. Three patients had one pathogenic variant for an autosomal recessive disorder (heterozygous carrier) that fit the phenotype. In seven patients, the preliminary evaluation concluded that genetic testing would not be informative (testing considered unnecessary).