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The test covers >300 DNA genes
Hematology Profile™ is a comprehensive DNA-based assay designed to identify molecular abnormalities across a broad range of hematologic neoplasms. By analyzing >300 genes associated with hematologic cancers, it supports diagnosis, classification, prognosis, therapy selection, and patient stratification in conditions such as MDS/CMML, AML, MPN, lymphoma, multiple myeloma, CHIP, and VEXAS syndrome.
Hematology Profile™ provides focused genomic insight for the evaluation of hematologic malignancies through targeted analysis of >300 clinically relevant DNA genes. It is particularly useful for distinguishing overlapping disease states, assessing prognosis, guiding treatment decisions, and identifying key mutations involved in disorders such as AML, MDS, CHIP, VEXAS syndrome, lymphoma, and myeloproliferative neoplasms.
With a turnaround time of 5–7 days, this assay helps clinicians obtain actionable molecular information for diagnosis, risk stratification, treatment planning, and longitudinal monitoring.
The test covers >300 DNA genes
This is a comprehensive evaluation for molecular abnormalities in various hematologic neoplasms.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.
Real-world applications of our genomic testing
We provide a selection of real-world case studies that demonstrate the clinical utility and diagnostic impact of our genomic tests. Click the button below to explore individual cases and see how Hematology Profile™ contributes to precision oncology in practice.
Our case study list is continuously updated as new clinical examples become available. We encourage you to revisit this page regularly to explore the latest insights and applications of our genomic testing in real-world settings.
- Bone marrow: 2 mL EDTA tube is preferred.
- Peripheral blood: 5-10 mL in an EDTA tube is required.
- FFPE: 1 H&E slide and 8-10 unstained slides, 5-7 microns of BM clot or tissue fixed with 10% NBF fixative. Alternatively, the FFPE block of the BM clot can be sent for sectioning in our Lab.
This is a brief overview of the sample requirements for this test. For complete and detailed instructions regarding specimen collection, handling, and submission, please download the full sample guidelines by clicking the button below.
Specimen Preparation and Shipping Guidelines
Use the Hematology Transport Kit or Solid Tumor Transport Kit (depending on the sample type)
For blood samples:
Important: RNA stability is 48-72 hours from blood draw. DNA stability is 7 days from blood draw. Samples received beyond 72 hours may include only DNA results.
Fill out the form to request kits. Please refer to the Specimen Requirements page for more details.
*GTC will need to set you up in our system if this is your first order.
