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. Author manuscript; available in PMC: 2019 Feb 2.
Published in final edited form as: JAMA Pediatr. 2017 Dec 4;171(12):e173438. doi: 10.1001/jamapediatrics.2017.3438

Table 3.

Summary of cases receiving molecular diagnosis with exome as first-tier or second-tier testing

Patient age at testing (days) median±sem Exome TAT (days) median±sem Patient age at diagnosis (days) median±sem Clinical management changed (number and percentage) Exome category (number and percentage)
Exome offered as first-tier testing 56/102 (54.9%) 13.7±3.9 38.4±4.7 70.8±20.6 30/56 (53.6%) Proband: 25/56 (44.6%) Trio: 7/56 (12.5%) Critical: 24/56 (42.9%)
Exome offered as second-tier testing 46/102 (45.1%) 36.6±4.4 73.0±5.1 123.6±37.6 23/46 (50.0%) Proband: 33/46 (71.7%) Trio: 5/46 (10.8%) Critical: 8/46 (17.4%)
p value (two-tailed t-test) 0.004904 0.001013 0.007907 0.842402 N/A

sem: standard error of mean

N/A: not applicable