The ETV6 gene is located on chromosome 12p13.2. The ETV6 Break Apart FISH probe is designed to label both ends of the ETV6 gene, respectively. A 210 Kb orange probe is designed at the 3′ end of the ETV6 gene, and a 610 Kb green probe is designed at the 5′ end of the ETV6 gene.

Applied to Infantile Fibrosarcoma with ETV6-NTRK3 fusion (75-90% incidence). Aids differential diagnosis from infantile myofibromatosis, rhabdomyosarcoma, and other spindle cell tumors.sss LMNA-NTRK1 fusion also found in some infantile myofibroblastic tumors.

Detects ETV6 rearrangements at 12p13.2 and deletions of 12p13.2 in hematologic malignancies including acute myeloid leukemia, myelodysplastic syndromes, and B-ALL. Also identifies ETV6 rearrangements in solid tumors including mammary analogue secretory carcinoma, secretory breast carcinoma, and infantile fibrosarcoma. Associated with poor prognosis and disease monitoring in hematological malignancies.