In patient BMA17, referred for myelodysplastic syndrome, OGM detected a heterozygous 1.4 kb insertion in a 6.6 kb region located between two OGM labels (ogm[GRCh37]ins(12p13.2)(11,889,007_11,895,594)) that includes ETV6 (chr12:11,802,788–12,048,325). The gene discussed is ETV6; the disease is myelodysplastic syndrome.