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Precision Diagnosis, Classification & Advanced Treatment

Hematology Profile


This Hematology Profile™ is designed to profile the molecular abnormalities in various hematologic neoplasms. The test analyzes the DNA of 179 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.

-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 Anthology Diagnostics-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 Anthology Diagnostics-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 Anthology Diagnostics-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. 

Turn Around Time: 5-7 days


  • Bone marrow: 2 mL. EDTA tube is preferred.
  • Peripheral blood: 5 mL. EDTA tube is preferred.
  • Fresh Tissue
  • FFPE: 1 H&E slide and 6-10 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.


Specimen Preparation and Shipping Guidelines

Use the Hematology Transport Kit or Solid Tumor Transport Kit (depending on the sample type)

  • Complete Requisition, making sure all sections are completed in their entirety including client information, patient Information, specimen Information and test Selection.  Missing information may delay reporting of test results.
  • Diagnosis/patient history is extremely important in rendering the correct interpretation of results and should also be filled out as completely as possible. A copy of a Path report should be included.
  • Ensure the specimen is labeled with patient name and number.  A minimum of two patient identifiers is required for each specimen

For FFPE samples:

  • If sending FFPE Block-Insert up to 6 blocks into plastic block tray provided. Insert block tray into foam insert in the transport box.
  • If sending slides-Insert slides into plastic slide holders provided. Insert the slide holders into the foam insert in the transport box.  The container will hold up to 6 maximum slide holders.
  • Place folded test requisition(s) and/or manifest(s) if ordered electronically into the transport kit. 
  • Close box and tuck tabs into place. No tape necessary. 

For blood samples:

  • Ship using a cold pack. The cold pack should not directly contact the blood tube. Ship as soon as sample collected with overnight delivery.


Genes validated and tested for Mutations in DNA testing for hematology

How to complete
the Anthology Diagnostics requisition form.

Detailed Instructions

Download our
Test Requisition

Access Requisition

Keep in mind that we do not accept blood samples directly from individuals. Talk with your M.D. to fill out the form for you.

Do You Want to Download the Sample Report?

Sample Report for Hematology Profile