Alternative Name
Test Description

Bi-directional sequencing of exons 2-7 of the ETV6 gene (formerly called TEL). This assay detects sequence variants rather than ETV6 translocations.

Clinical Significance

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.

Specimen Requirements
  • Peripheral blood: 5 mL in EDTA tube.
  • Bone marrow: 2 mL in EDTA tube.
Storage and Transportation

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.

CPT Code(s)*
Turnaround Time

14 days

Level of Service

*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.