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Table 3 Previously characterized large rearrangements that were included in the study

From: Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk

Gene Mutation microarray CGH NGS dosage analysis MLPA
APC deletion promoter 1B - exon 3 detected detected n/a
deletion exon 4 detected detected n/a
BRCA1 duplication promoter 1A - exon 2 detected detected n/a
deletion promoter 1A - exon 19 detected detected n/a
duplication exons 5 - 7 detected detected n/a
deletion exon 13 detected n/a -- insufficient volume n/a
duplication exon 13 detected detected n/a
deletion exons 15 – 16 detected n/a -- insufficient volume n/a
deletion exons 16 - 17 detected detected n/a
deletion exon 24 detected detected n/a
BRCA2 duplication exons 12 - 13 detected detected n/a
EPCAM deletion exons 2 - 3' UTR detected detected n/a
MLH1 deletion exons 4 - 9 detected detected n/a
deletion exon 13 detected detected n/a
deletion exon 14 detected detected n/a
deletion exon 16 detected detected n/a
MSH2 deletion exon 1 detected detected n/a
deletion exons 1 - 6 detected No Result n/a
duplication exons 1 - 6 detected detected n/a
deletion exons 1 - 7 detected detected n/a
deletion exons 1 - 8 detected detected n/a
deletion exons 1 - 10 detected detected n/a
deletion exons 8 - 15 detected detected n/a
deletion exon 16 detected detected n/a
MSH6 deletion exons 4 (3' end) - 10 detected detected n/a
MUTYH duplication exon 1 detected detected n/a
PMS2 deletion exon 10 n/a n/a detected
deletion exons 1 - 5 n/a n/a detected
deletion exons 13 - 14 n/a n/a detected
deletion exons 14 - 15 n/a n/a detected
deletion exons 9 - 11 n/a n/a detected