Table 2.

Beckwith-Wiedemann syndrome genetic type and tissue specific testing

	BWS Genetic Type	Methylation (WT)		Methylation (Ipsilateral Kidney sample)		Methylation (blood)		Methylation (skin bx)		SNP
		IC1	IC2	IC1	IC2	IC1	IC2	IC1	IC2
Patient 1	IC1 GOM	90%	49%	63%	50%	51%	51%	57%	50%	blood: normal WT (1st): normal WT (2nd): normal ipsilateral kidney: normal skin bx: normal
Patient 2	pUPD11	86%	3%	52%	51%	49%	50%	NP	NP	blood: normal ipsilateral kidney: normal
Patient 3	IC1 GOM	88%	50%	74%	49%	50%	52%	52%	50%	blood: normal WT (1st): no cnLOH 11 ipsilateral kidney: normal skin bx: normal WT (2nd): normal
Patient 4	pUPD11	66%	35%	NP	NP	NP	NP	NP	NP	chromosome 11 cnLOH in WT normal chromosome 11 in Ewings sarcoma
Patient 5	pUPD11	NP	NP	NP	NP	NP	NP	NP	NP	WT: cnLOH 11p15.5p13 ipsilateral kidney: normal
Patient 6	pUPD11	92%	9%	NP	NP	50%	50%	NP	NP	WT: cnLOH in chromosome 11
Patient 7	IC1 GOM	79%	51%	NP	NP	NP	NP	NP	NP	WT: normal
Patient 8	IC1 GOM	61%	50%	NP	NP	NP	NP	NP	NP	NP
Patient 9	IC1 KCNQ1 duplication	88%	49%	82%	50%	NP	NP	NP	NP	not performed
Patient 10	pUPD11	91% (R) 88% (L)	2% (R) 4% (L)	53%	49%	50%	49%	NP	NP	WT: cnLOH 11p15.5p13 (60% mosaic) ipsilateral kidney margin - normal right side bx - normal
Patient 11	pUPD11	94.42%	0.01%	52%	50%	50%	51%	NP	NP	WT: cnLOH 11p15.5p15.4 (97% mosaic) left skin bx - normal
Patient 12	IC1 GOM	97%	49%	76%	51%	NP	NP	NP	NP	WT: normal for 11p15 region ipsilateral kidney margin - normal left skin bx - normal

NP: not performed, GOM: Gain of Methylation, cnLON: copy neutral loss of heterozygosity