Background:
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.
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Select fusions detected by the GeneTrails Heme Fusion Gene Panel
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| BCR::ABL1 |
Chronic Myeloid Leukemia (CML), Acute Lymphoblastic Leukemia (ALL)
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| PML::RARA |
Acute promyelocytic leukemia (APL), Acute Myeloid Leukemia (AML)
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| CBFB::MYH11 |
Acute Myeloid Leukemia (AML) |
| KMT2A fusions |
Acute Myeloid Leukemia (AML) |
| NUP98 fusions |
Acute Myeloid Leukemia (AML) |
| PDGFRB fusions |
Myeloproliferative neoplasms |
| RUNX1::RUNX1T1 |
Acute Myeloid Leukemia (AML), Myelodysplastic Syndromes (MDS) |
| TCF3::PBX1 |
B-Cell Acute Lymphoblastic Leukemia (B-ALL) |
| JAK::PAX5 |
B-Cell Acute Lymphoblastic Leukemia (B-ALL) |
| DEK::NUP214 |
Acute Myeloid Leukemia (AML) |
| SET::NUP214 |
Acute Myeloid Leukemia (AML) |
| NUP214::ABL1 |
T-Cell Acute Lymphoblastic Leukemia (T-ALL) |
| ETV6::RUNX1 |
B-Cell Acute Lymphoblastic Leukemia (B-ALL) |
| ETV6::PDGFRB |
Acute Myeloid Leukemia (AML) |
| ETV6::ABL1 |
B-Cell Acute Lymphoblastic Leukemia (B-ALL) |
| ETV6::JAK2 |
B-Cell Acute Lymphoblastic Leukemia (B-ALL) |
| ETV6::MN1 |
B-Cell Acute Lymphoblastic Leukemia (B-ALL) |
| STIL::TAL1 |
T-Cell Acute Lymphoblastic Leukemia (T-ALL) |
| BCR::JAK2 |
Chronic Myeloid Leukemia (CML), Myeloid neoplasms |
| CBFA2T3::GLIS2 |
Acute Myeloid Leukemia (AML) |
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.
Methodology:
This next generation sequencing panel is performed on RNA extracted from fresh peripheral blood or bone marrow. RNA transcripts (cDNA) for sequencing are selectively enriched via single primer extension PCR then submitted to massively parallel sequencing (next-generation sequencing) on an Illumina platform. An in-house bioinformatics pipeline utilizes the STAR-Fusion method to identify and annotate fusion transcripts.
Clinical Sensitivity:
Samples with a leukemic cell burden below ~5% will likely not show detectable fusion transcripts with this methodology. This assay will therefore not usually be informative on post-treatment remission samples.
Targeted Regions Of These 367 Genes Are Covered
Clinical Specificity:
~100%
Specimen Requirements:
Blood or Bone Marrow: EDTA or ACD (Solution A or B):
- Adults: 5-10mL
- Child: 5mL
- Infant: 2-3mL
RNA: please send 200ng 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):
Weekly
Turn Around Time:
14-18 days
Shipment Sensitivity Requirements:
- Package and ship specimen to remain cold, but not frozen.
- Ship via overnight express, using the FedEx priority overnight label provided.
- Contact Client Services for shipping kits and instructions at (855) 535-1522.
References:
Additional Info: