Table 4.

MLPA results from the validation study.

	Prader-Willi						DiGeorge						Autism						HapMap
Gene/Region	#1			#2			#1			#2			#1			#2			#1			#2			#3
ENm323	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
ENm013	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
ENm014	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
RNAseP (RPP30)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
ENr222	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
ENr111	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
ENr233	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
ENm313	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
ENr213	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
RP11-71N21	0	0	0	0	0	0	0	0	0	0	0	0	1	1	1	1	1	1	0	0	0	0	0	0	0	0	0
ZWINT	0	0	0	0	0	0	0	0	0	0	0	0	1	1	1	1	0	1	0	0	0	0	0	0	0	0	0
PHYLIP	0	0	0	0	0	0	0	0	0	0	0	0	1	1	1	1	1	1	0	0	0	0	0	0	0	0	0
SNRPN	-1	-1	-1	-1	-1	-1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
UBEA3A	-1	-1	-1	-1	-1	-1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
UBE3A	-1	-1	-1	-1	-1	-1	0	0	0	0	0	0	0	0	0	0	0	-1	0	0	0	0	0	0	0	0	0
HIRA	0	0	0	0	0	0	-1	-1	-1	-1	-1	-1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0

The three colums for each individual indicates the result obtained using mixed-model, threshold and REX-MLPA approaches, respectively. The code for the results are the following: -1: relative loss, 0:normal, 1:relative gain. Those result where a disagreement between the three methods is observed are in bold face.