Bi-directional sequencing of exons 2-7 of the ETV6 gene (formerly called TEL). This assay detects sequence variants rather than ETV6 translocations.
ETV6 translocations are implicated in leukemias, myelodsyplastic syndrome (MDS), and sarcoma. Mutations within the ETV6 gene, such as those detected by this assay, are detected in acute lymphoblastic leukemia (ALL) and approximately 3% of MDS. ETV6 mutations have been shown to be independent predictors of poor prognosis in MDS.
- Peripheral blood: 5 mL in EDTA tube.
- Bone marrow: 2 mL in EDTA tube.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.