This Hematology Profile™ is designed to profile the molecular abnormalities in various hematologic neoplasms. The test analyzes the DNA of 302 genes that are associated with hematologic cancers including:
Myelodysplastic syndrome (MDS)/Chronic myelomonocytic leukemia (CMML): The Hematology Profile is used for stratifying patients, determining prognosis and selecting therapy. This assay will not only determine the aggressiveness and prognosis of the MDS but will also determine if the patient has reactive cytopenia and will distinguish between CHIP (Clonal Hematopoiesis of Indeterminate Potential) or CCUS (Clonal Cytopenia of Unknown Significance) and MDS.
VEXAS Syndrome: Recently described VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is caused by mutations in the UBA1 gene. This is an adult-onset fatal disease that may present as myelodysplastic syndrome, aplastic anemia or multiple myeloma, but characterized by fevers, low white cell count, vacuoles in bone marrow cells, dysplastic bone marrow, pulmonary inflammation, chondritis, and vasculitis. Detecting the presence of mutations in the UBA1 gene is the only way for confirming the diagnosis of VEXAS syndrome.
Acute Myeloid Leukemia (AML): The Hematology Profile helps in the diagnosis of AML and distinguish between De Novo AML vs secondary AML. It also helps in determining eligibility for treatment with FLT3 and IDH1/2 inhibitors. For a complete evaluation of translocations including all types of APL, Inv16, and t(8,21) and NUP98 translocations, we recommend ordering the GTC-Hematology PLUS panel.
Myeloproliferative Neoplasms (MPN): This includes quantitative analysis of all exons of JAK2, CALR, and MPL.
Lymphoma: Analysis of mutations reported in various types of lymphoma, including follicular, DLBCL, CLL, and T-cell lymphoma. However, for a complete evaluation of lymphoma including determining double hit lymphoma and diagnosis of ABC vs GBC, RNA adding the ordering GTC-Hematology PLUS panel is recommended.
Multiple Myeloma: This Hematology Profile detects mutations in the coding sequence of genes frequently mutated in MM, but for a thorough evaluation, we recommend ordering GTC-Hematology PLUS to cover expression abnormalities and chromosomal translocations.
Clonal Hematopoiesis of Indeterminate Potential (CHIP): Distinguish CHIP from clinically active and relevant hematologic neoplasm based on an internally developed algorithm using variant allele frequency, chromosomal structural abnormalities, clinical and laboratory data and longitudinal data. This distinction is particularly important when evaluating minimal residual disease and in the presence of other neoplastic process.