26018 MayoComplete Myeloid Neoplasms, Comprehensive OncoHeme Next-Generation Sequencing, Varies (NGSHM)

​NGS hematologic malignancies, NGS cancer panel, hematologic, Somatic mutation detection by next generation sequencing (NGS), hematologic, Next gen sequencing of leukemia (AML) and myelodysplasia (MDS), NGS for myeloid neoplasm evaluation (MPN), Next Gen Sequencing Test, ASXL1, BCOR, CALR, CBL, CEBPA, CSF3R, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NPM1, NRAS, PHF6, PTPN11, RUNX1, SETBP1, SF3B1, SRSF2, TERT, TET2, TP53, U2AF1, WT1, ZRSR2, ANKRD26, DDX41, ELANE, ETNK1, KDM6A, RAD21, SH2B3, SMC3, STAG2, BCORL1, BRAF, Enasidenib therapy, Gilteritinib therapy, Ivosidenib therapy, Midostaurin therapy, NF1, PPM1D, STAT3, UBA1, Mayo Complete​​

Evaluation of known or suspected hematologic neoplasms, specifically of myeloid origin (eg, acute myeloid leukemia, myelodysplastic syndrome, myeloproliferative neoplasm, myelodysplastic/myeloproliferative neoplasm, unexplained cytopenias) at the time of diagnosis or possibly disease relapse, to help determine diagnostic classification and provide prognostic or therapeutic information for helping guide clinical management

Determine the presence of new clinically important gene mutation changes at relapse

Gross hemolysis, Bone marrow biopsies, Slides, Paraffin shavings or frozen tissues, Paraffin-embedded tissues, Paraffin-embedded bone marrow aspirates, Moderately to severely clotted specimens

This test is a targeted next-generation sequencing (NGS) assay that encompasses 47 genes with variable full exon, partial region (including select intronic or noncoding regions), or hot spot coverage (depending on specific locus). Therefore, this test will not detect other genetic abnormalities in genes or regions outside the specified target areas. The test detects single base substitutions (ie, point mutations) as well as small insertion or deletion type events, but it does not detect gene rearrangements (ie, translocations), gene fusions, copy number alterations, or large scale (segmental chromosome region) deletions and complex changes.

This assay does not distinguish between somatic and germline alterations in analyzed gene regions, particularly with variant allele frequencies near 50% or 100%. If nucleotide alterations in genes associated with germline variant syndromes are present and there is a strong clinical suspicion or family history of malignant disease predisposition, additional genetic testing and appropriate counseling may be indicated. A low incidence of gene mutations associated with myeloid neoplasms can be detected in nonmalignant hematopoietic cells in individuals with advancing age (clonal hematopoiesis of indeterminate potential), and these may not be clearly distinguishable from tumor-associated mutations. Some apparent mutations classified as variants of uncertain significance may represent rare or low-frequency polymorphisms.

Prior treatment for hematologic malignancy could affect the results obtained in this assay. In particular, a prior allogeneic hematopoietic stem cell transplant may cause difficulties in resolving somatic or polymorphic alterations or in assigning variant calls correctly to donor and recipient fractions, if pertinent clinical or laboratory information (eg, chimerism engraftment status) is not provided.

Correlation with clinical, histopathologic, and additional laboratory findings is required for final interpretation of NGS results and is the responsibility of the managing physician.​

Next-generation sequencing is a comprehensive molecular diagnostic methodology that can interrogate multiple regions of genomic tumor DNA in a single assay. Many hematologic neoplasms are characterized by morphologic or phenotypic similarities but can have characteristic somatic mutations in many genes that enable more specific categorization. In addition, many myeloid neoplasms lack a clonal cytogenetic finding at diagnosis (normal karyotype) but can be diagnosed or confirmed and classified according to the gene mutation profile. Patients with unexplained cytopenias may harbor acquired genetic alterations in hematopoietic cells (clonal cytopenias of uncertain significance), which may carry risk of developing overt myeloid malignancies. The presence and pattern of gene mutations in known or suspected myeloid neoplasm can provide critical diagnostic, prognostic, and therapeutic information to help guide management for the patient's physician.

Detailed variant assessment and interpretive comments will be provided for all reportable genetic alterations.

If this test is ordered in the setting of erythrocytosis and suspicion of polycythemia vera, interpretation requires correlation with a concurrent or recent prior bone marrow evaluation.