• Test Code:
  • Department:
  • Test Synonyms:
    Leukemia gene fusion panelLeukemia RNA fusion transcripts (by NGS)Leukemia translocation genes (by NGS)
  • CPT Code(s):

The GeneTrails Heme Fusion Gene Panel uses next-generation sequencing (NGS) to identify gene fusions (RNA transcripts) that frequently occur in leukemias, including but not limited to: acute myelogenous and lymphoid leukemias (AML, ALL), chronic myelogenous (CML), and Myelodysplastic Syndromes (MDS). This NGS panel covers targeted regions of 367 different mRNA transcripts that have been shown to play a role in leukemic diagnosis, prognosis, and guiding therapy. Some fusions detected by this panel may directly inform targeted or non-targeted treatment options.

Select fusions detected by the GeneTrails Heme Fusion Gene Panel

BCR::ABL1 Chronic Myeloid Leukemia (CML), Acute Lymphoblastic Leukemia (ALL) [t(9;22)] 
PML::RARA Acute promyelocytic leukemia (APL), Acute Myeloid Leukemia (AML) [t(15;17)] 
CBFB::MYH11 Acute Myeloid Leukemia (AML) [t(16;16)] 
KMT2A fusions Acute Myeloid Leukemia (AML), B-Cell Acute Lymphoblastic Leukemia (B-ALL) [11q23]
NUP98 fusions Acute Myeloid Leukemia (AML) [11p15] 
PDGFRB fusions Myeloproliferative neoplasms [5q32] 
RUNX1::RUNX1T1 Acute Myeloid Leukemia (AML), Myelodysplastic Syndromes (MDS) [t(8;21)]  
TCF3::PBX1 B--Cell Acute Lymphoblastic Leukemia (B-ALL) [t(1;19)] 
PAX5-multiple partners B-Cell Acute Lymphoblastic Leukemia (B-ALL) (9p13) 
DEK::NUP214 Acute Myeloid Leukemia (AML) [t(6;9)] 
SET::NUP214 Acute Myeloid Leukemia (AML), T-Cell Acute Lymphoblastic Leukemia (T-ALL) [del(9)]
NUP214::ABL1 T-Cell Acute Lymphoblastic Leukemia (T-ALL)
ETV6::RUNX1 B--Cell Acute Lymphoblastic Leukemia (B-ALL) [t(12;21)] 
ETV6-multiple partners Various hematologic malignancies (12p13)
Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions
CBFA2T3::GLIS2 Pediatric Acute Myeloid Leukemia (AML) [inv(16)] 
NPM1::ALK Anaplastic Large Cell Lymphoma [t(2;5)] 

Clinical Utility:
This panel identifies RNA fusion transcripts (often produced from gene/chromosome translocations) without prior knowledge of the fusion partners or gene/chromosome breakpoints. RNA fusions with both known and unknown fusion partners are identified. 


RNA extracted from fresh peripheral blood or bone marrow (not fixed) is extracted. RNA transcripts (cDNA) for sequencing are selectively amplified via single primer extension PCR then subjected to massively parallel sequencing (next-generation sequencing) on an Illumina platform. An in-house bioinformatics pipeline utilizes the STAR-Fusion tool to identify and annotate fusion transcripts.

Analytical Sensitivity:
Samples with a clonal disease burden below ~5% will usually have too few disease-associated fusion transcripts for reliable detection. This assay will therefore not usually be informative on post-treatment samples.

Clinical Specificity: ~100% (no false positive results have been observed) 

Targeted Regions Of These 367 Genes Are Covered

Specimen Requirements:

Blood or Bone Marrow: EDTA or ACD (Solution A or B):

  • Adults: 5-10mL
  • Child: 5mL
  • Infant: 2-3mL
FFPE: Formalin-fixed paraffin-embedded (FFPE) tissue blocks or 10-15 unstained slides (5 microns)

RNA: 200ng (frozen) at a minimum of 10ng/µL (RNA must be extracted in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or CMS)

For all non-blood samples, a Pathology report MUST accompany sample for interpretation of results.
A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information.

Test Performed (Days):


Turn Around Time:

14-18 days

Shipment Sensitivity Requirements:

  • Blood or Bone marrow, package and ship specimen to remain cold, but not frozen.
  • RNA is to be shipped frozen.
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.


Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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