Alternative Name
TEL-AML1, ETV6-RUNX1, ETV6 translocation
Methodology
Molecular
Test Description

Real-time RT-PCR for quantitative detection of the t(12;21) ETV6-RUNX1 fusion transcript (formerly called TEL-AML1). Analytical sensitivity is 1 tumor cell in 100,000 normal cells. Positive results are reported as a percentage ratio between quantities of transcript of t(12;21) and the sum of t(12;21) plus a control gene.

Clinical Significance

The (12;21) translocation occurs in approximately 25-30% of pediatric B-cell acute lymphoblastic leukemia (B-ALL), but is rare in adult cases. This translocation is associated with a high rate of complete remission and good outcome. This assay is recommended for monitoring therapy effectiveness and for the detection of minimal residual disease (MRD) after confirming baseline detection. Due to breakpoint variations, this assay cannot detect all ETV6-RUNX1 translocations and FISH should be used if diagnostic confirmation is required.

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)*
81401x1
Turnaround Time

7 days

Level of Service
Global

*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.