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This test is intended for the molecular evaluation of myeloid neoplasms, including myeloproliferative neoplasms (MPN), myelodysplastic syndromes (MDS), myelodysplastic/myeloproliferative neoplasms, acute myeloid leukemias (AML), mastocytosis, and myeloid neoplasms with eosinophilia and gene rearrangement. The detection of molecular alterations described in these neoplasms can be useful in their diagnosis and classification. In addition, the pattern of particular alterations can be prognostically informative and can have implications for the use of both targeted and conventional therapies. Given the wide variety of different, clinically significant molecular alterations present in myeloid neoplasms and the importance of the molecular landscape of co-occurring alterations, a next-generation sequencing (NGS) panel-based approach is the optimum method for interrogating these neoplasms. The DNA portion of this NGS panel evaluates 50 genes for substitution and insertion/deletion mutations. RNA is also interrogated for recurrent gene fusions described in myeloid neoplasms and acute leukemia’s, which may not be detected by conventional cytogenetics (cryptic). While this panel is primarily designed to detect recurrent, somatic molecular alterations described in myeloid neoplasms, germline alterations associated with a genetic predisposition to myeloid neoplasms (e.g. CEBPA, DDX41, RUNX1, ANKRD26, ETV6, GATA2, etc.) can also be detected. This test is intended for diagnostic specimens, not for the detection of minimal residual disease.
Interpretive Report Provided
*Reference ranges may change over time. Please refer to the original patient report when evaluating results.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Collect blood or bone marrow in a lavender top tube. Refrigerate and send intact blood or bone marrow specimen within 48 hours of collection. Fresh tissue (preferably 0.5 cm3, sent in RPMI) and fresh aspirates or body fluids are acceptable. Refrigerate and send, preferably within 24 hours. Frozen tissue specimens – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice. Fresh cell suspensions in RPMI should be refrigerated and sent, preferably within 48 hours. Frozen cell suspensions – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice. Fixed cytogenetic cell suspensions or pellets in Carnoy’s fixative. Refrigerate and send.