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FeedbackLaboratory testing for hematologic malignancies, including leukemias, lymphomas, and myeloid neoplasms, may include a variety of techniques such as flow cytometry, cytogenetic analysis, and molecular genetic testing. Laboratory testing may be involved in diagnosis, prognosis, minimal residual disease (MRD) assessment, treatment planning, and monitoring.
Evaluation of bone marrow and immunophenotypic, cytogenetic, and molecular genetic ancillary studies are necessary for accurate classification and risk stratification in AML.
Cytogenetic and molecular studies play a key role in evaluation of myelodysplastic syndromes, including in diagnosis, prognostic stratification, medical management, and monitoring.
Laboratory testing for myeloproliferative neoplasms includes peripheral blood examination, bone marrow evaluation, cytogenetic testing, and molecular testing for specific mutations.
The diagnostic approach to mast cell disorders depends on the type of disorder. Tests include serum tryptase measurement and KIT gene mutational analysis on bone marrow and/or peripheral blood.
Minimal Residual Disease Testing
Laboratory techniques used in minimal residual disease assessment include polymerase chain reaction (PCR), deep sequencing (a type of next generation sequencing, or NGS), and flow cytometry.
Chronic Myeloid Leukemia - CML
The presumptive diagnosis of CML is made from blood cell counts and peripheral smear examination. Further testing includes cytogenetics, FISH, PCR, and NGS.
Acute Lymphoblastic Leukemia - ALL
Tests used in ALL diagnosis, risk stratification, treatment planning, and monitoring include flow cytometry, morphology, cytogenetic studies, and fluorescence in situ hybridization (FISH) analysis.
Chronic Lymphocytic Leukemia - CLL
The diagnosis of CLL generally requires detection of CLL-type cells via flow cytometry. Cytogenetic and molecular testing also play an important role.
Plasma cell dyscrasia evaluation begins with an investigation of the presence and type of monoclonal proteins (also known as M proteins) and proceeds with additional tests.
Eosinophil-Related Disorders - Eosinophilia
Identifying the underlying etiology of eosinophilia is essential and may require laboratory tests and histopathologic analysis.
The diagnostic approach to mature B-cell lymphomas generally involves biopsy, phenotyping by flow cytometry and/or immunohistochemistry (IHC), and cytogenetic studies.
The diagnostic approach to T- and NK-cell lymphomas varies by the disease suspected, but generally involves biopsy and phenotyping by flow cytometry and/or immunohistochemistry.