Table 2 Details of 51 samples included in the test set and the results of MS-MLPA analysis

Sample ID	11p15 status	MS-MLPA			Confirmed by
Sample ID	11p15 status	Copy number	MI at H19 DMR	MI at KvDMR1	Confirmed by
TEST01-24	Normal	Normal	Normal	Normal	NA
TEST25	Paternal duplication 11p15	Duplication all 11p15 probes	HM	LOM	Telomere MLPA
TEST 26	H19 DMR microdeletion	Deletion probes ICR 2–4	HM	Normal	Sequencing
TEST27	Isolated H19 DMR hypermethylation	Normal	HM	Normal	CoBRA, Pyrosequencing
TEST28	Isolated H19 DMR hypermethylation	Normal	HM	Normal	Pyrosequencing
TEST29	Isolated H19 DMR hypermethylation	Normal	HM	Normal	Pyrosequencing
TEST30	Isolated H19 DMR hypermethylation	Normal	HM	Normal	Pyrosequencing
TEST31	Isolated H19 DMR LOM	Normal	LOM	Normal	Pyrosequencing
TEST32	Isolated H19 DMR LOM	Normal	LOM	Normal	Pyrosequencing
TEST33	Isolated H19 DMR LOM	Normal	LOM	Normal	Pyrosequencing
TEST34	Isolated KvDMR1 LOM	Normal	Normal	LOM	CoBRA, Pyrosequencing
TEST35	Isolated KvDMR1 LOM	Normal	Normal	LOM	CoBRA, Pyrosequencing
TEST36	Isolated KvDMR1 LOM	Normal	Normal	LOM	CoBRA, Pyrosequencing
TEST37	Isolated KvDMR1 LOM	Normal	Normal	LOM	CoBRA, Pyrosequencing
TEST38	Isolated KvDMR1 LOM	Normal	Normal	LOM	Pyrosequencing, Southern
TEST39	Isolated KvDMR1 LOM	Normal	Normal	LOM	CoBRA, Pyrosequencing
TEST40	Isolated KvDMR1 LOM	Normal	Normal	LOM	CoBRA, Pyrosequencing
TEST41	Paternal UPD 11p15	Normal	HM	LOM	Microsatellite analysis
TEST42	Paternal UPD 11p15	Normal	HM	LOM	Microsatellite analysis
TEST43	Paternal UPD 11p15	Normal	HM	LOM	Microsatellite analysis
TEST44	Paternal UPD 11p15	Normal	HM	LOM	Microsatellite analysis
TEST45	Paternal UPD 11p15	Normal	HM	LOM	Microsatellite analysis
TEST46	Paternal UPD 11p15	Normal	HM	LOM	Microsatellite analysis
TEST47	Paternal UPD 11p15	Normal	HM	LOM	Microsatellite analysis
TEST48	Paternal UPD 11p15	Normal	HM	LOM	Microsatellite analysis
TEST49	Paternal UPD 11p15	Normal	HM	LOM	Microsatellite analysis
TEST50	Paternal UPD 11p15	Normal	HM	LOM	Microsatellite analysis
TEST51	Paternal UPD 11p15	Normal	HM	Borderline LOM	Microsatellite analysis

CoBRA, combined bisulfite restriction analysis; DMR, differentially methylated region; HM, hypermethylation; LOM, loss of methylation; MI, methylation index; MS-MLPA, methylation-specific multiplex-dependent ligation probe amplification; NA, not applicable; UPD, uniparental disomy.