Table 1.

Summary of 278 infants tested with exome sequencing

Patient Information			Overall Rate (n=278)	Proband exome (n=176, 63%)	Trio exome (n=39, 14%)	Critical trio exome (n=63, 22%)	p value*** (critical trio exome vs the rest)
Demographic	Patient age (days) Median ± sem*		28.5±1.7	29.0±2.2	31.5±3.9	22.7±3.9	0.521667
	Number and percentage of patients in ICU		251/278 (90.3%)	156/176 (88.6%)	34/39 (89.5%)	61/63 (96.8%)	0.052420
Exome sequencing	Exome sequencing diagnosis (number and percentage)		102/278 (36.7%)	57/176 (32.4%)	13/39 (33.3%)	32/63 (50.8%)	0.011226
	TAT (days) Median ± sem		73.1±2.1	95.0±1.5	51.1±3.2	13.0±0.4	<0.00001
Medical impact	ICU stay length (days) Median ± sem	Diagnosed	29.5±5.1	28.0±6.3	32.0±14.3	42.5±10.2	0.112285
		Undiagnosed **	38.5±4.6	41.0±5.8	35.0±6.9	31.0±13.4	0.834061
	5-year death rate (number and percentage)	Diagnosed	39/102 (38.2%)	27/57 (47.4%)	2/13 (15.4%)	10/32 (31.3%)	0.384029
		Undiagnosed	41/170 (24.1%)	30/117 (25.6%)	3/25 (12.0%)	8/28 (28.6%)	0.629165
	120-day death rate (number and percentage)	Diagnosed	30/102 (29.4%)	18/57 (31.6%)	2/13 (15.4%)	10/32 (31.3%)	0.817358
		Undiagnosed	28/170 (16.5%)	21/117 (17.9%)	1/25 (4.0%)	6/28 (21.4%)	1
	In diagnosed patients with exome sequencing	Age at diagnosis Median ± sem	94.4±21.0	116.5±27.4	78.0±103.1	33.1±5.6	0.001883
		Diagnosed before discharge (number and percentage)	38/102 (37.3%)	13/57 (22.8%)	4/13 (30.8%)	21/32 (65.6%)	<0.00001
		Affected medical management? (number and percentage)-Total	53/102 (52.0%)	26/57 (45.6%)	4/13 (33.3%)	23/32 (71.9%)	0.009902
		Re-direction of care	19	11	0	8	NA
		Initiation of subspecialist care	27	12	3	12	NA
		Change in treatment or diet	7	2	1	4	NA
		Major procedures completed	5	2	0	3	NA

^*sem: standard error of mean (sem)

^**Excluding partial diagnosis or diagnosed by other methodologies

^***two-tailed t-test or Fisher exact test, when applicable. Bold, p value < 0.05