Hematological Malignancies GeneTrails Heme Fusion Gene Panel

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Test Code:

4610
Department:

Hematological Malignancies
Test Synonyms:

Leukemia gene fusion panel • Leukemia RNA fusion transcripts (by NGS) • Leukemia translocation genes (by NGS)
CPT Code(s):

81456

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.

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)
PDGFRA, PDGFRB, FGFR1, JAK2 fusions	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.

Methodology:

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):

Weekly

Turn Around Time:

14-18 days

Shipment Sensitivity Requirements: