Clinical utility of genomic investigations in a Middle Eastern pediatric gastroenterology disease cohort

Table 2 Genetic testing modalities and diagnostic yield

Test/panel	Positive	Total	%
WES	5	8	62.5
WESTRIO	3	3	100.0
WGS	1	1	100.0
VEOIBD panel	0	12	0.0
Custom gene panel	4	4	100.0
Cholestasis panel	4	10	40.0
CMA	3	7	42.9
UGT1A1 full gene sequencing	2	2	100.0
Gilbert syndrome genetic test	1	2	50.0
Crigler-Najjar syndrome genetic test	1	1	100.0
Targeted variant analysis	2	2	100.0
Pancreatitis panel	1	2	50.0
Chronic congenital diarrhea panel	1	3	33.3
Cystic fibrosis panel	1	1	100.0
Comprehensive lung panel	1	1	100.0
Alagille syndrome	1	1	100.0
Congenital mono- and disaccharide disorders panel	0	2	0.0
Unknown	7	7	100.0

WGS: Whole genome sequencing; WES: Whole exome sequencing; CMA: Chromosomal microarray analysis; VEOIBD: Very early-onset inflammatory bowel disease; WESTRIO: Whole exome sequencing trio.