Table 2.

Diagnoses According to Method.

Diagnosis	Patients with Complete Evaluation (N = 382)
	no./total no. (%)
Diagnosis by any method	132/382 (35)
Clinical review	15/132 (11)
Directed clinical testing	14/132 (11)
Nonsequencing genomewide diagnostic assay	5/132 (4)
Exome or genome sequencing*	98/132 (74)
Reanalysis of previously obtained sequencing data	11/132 (8)
Exome sequencing through the UDN	55/132 (42)
Had previously undergone exome sequencing	6/132 (5)
Genome sequencing through the UDN	32/132 (24)
Had previously undergone exome sequencing	17/132 (13)
No diagnosis	250/382 (65)

^*One diagnosis was established by both exome and genome sequencing.