Test Catalog

Test ID: ETVBF    
ETV6 (12p13.2) Rearrangement, FISH

Useful For Suggests clinical disorders or settings where the test may be helpful

Providing diagnostic and prognostic information for patients with various lymphoid and myeloid malignancies

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results. Additional charges will be incurred for application of all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Rearrangements involving 12p13 are some of the most commonly observed chromosomal abnormalities in hematologic malignancies. The ETV6 gene (ETS variant gene 6) codes for a transcription factor and is involved in deletions and translocations in both myeloid and lymphoid malignancies. Over 30 translocation partners have been identified.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Interpretation Provides information to assist in interpretation of the test results

A positive result is detected when the percent of cells with an abnormality exceeds the normal cutoff for the probe set.


A positive result suggests rearrangement of the ETV6 locus, which can be useful for diagnosis. A negative result suggests no rearrangement of the ETV6 gene region at 12p13.2.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

This test is not approved by the US Food and Drug Administration, and it is best used as an adjunct to existing clinical and pathologic information.

Supportive Data

FISH analysis was performed on 22 bone marrow samples from patients with previously identified 12p13.2 abnormality and 25 noncancerous blood and bone marrow control specimens. Rearrangement of ETV6 was identified in 22 samples. The normal controls were used to generate a normal cutoff for this assay.

Clinical Reference Recommendations for in-depth reading of a clinical nature

1. De Braekeleer E, Douet-Guilber N, Morel F, et al: ETV6 fusion genes in hematological malignancies: A review. Leuk Res 2012;36:945-961

2. Linka Y, Kruger M, Novosel A, et al: The impact of TEL-AML1 (ETV6-RUNX1) expression in precursor B cells and implications for leukemia using three different genome-wide screening methods. Blood Cancer J 2013;3:1-9

3. Bokemeyer A, Eckert C, Meyr F, et al: Copy number genome alterations are associated with treatment response and outcome in relapsed childhood ETV6/RUNX1-positive acute lymphoblastic leukemia. Haematologica 2014;99(4):706-714

4. Agape P, Gerard B, Cave H, et al: Analysis of ETV6 and ETV6-AML1 proteins in acute lymphoblastic leukaemia. Br J Haematol 1997;98:234-239

5. Haferlach C, Bacher U, Schnittger S, et al: ETV6 rearrangements are recurrent in myeloid malignancies and are frequently associated with other genetic events. Genes Chromosomes Cancer. 2012;51:328-337