Hematology Profile Plus

Anthology Diagnostics-Hematology Profile Plus combines expression and fusion with mutation analysis in DNA and RNA. The test covers 179 DNA genes and 1408 RNA genes. This is a comprehensive evaluation of all hematologic neoplasms. However, it is especially recommended for:

-Acute Lymphoblastic Leukemia (ALL):  This comprehensive assay is designed to confirm the diagnosis of Ph-ALL and Ph-like ALL and distinguish them from other types of ALL.  It can be used for diagnosis as well as for monitoring.  Ph-like ALL is detected in 20% to 25% of adult ALL and in 15% of pediatric ALL. Diagnosis of Ph+-ALL and Ph-like ALL is very important because TKI therapy can be helpful in most of these patients.  This assay can determine most of the mutations, translocations, and expression of genes (CRLF2) associated with Ph+ ALL and Ph-like ALL.

-Diffuse Large B-cell Lymphoma (DLBCL) and other Lymphoma:  This assay can provide very valuable information for the management and monitoring of patients with DLBCL.  It can distinguish between ABC and GCB and can help in the diagnosis of double hit lymphoma.  The assay is also useful for follicular lymphoma and T-cell neoplasms.

-Acute Myeloid Leukemia (AML):  Translocations in AML are very important for diagnosis, prognosis and selecting therapy.  This comprehensive testing can provide a complete evaluation of fusion mRNA and mutations.  It also helps in determining a diagnosis in acute leukemia with ambiguous phenotype.

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. 

IgVH Mutation Status: IgVH mutation status is very important for prognosis and selecting therapy in patients with chronic lymphocytic leukemia (CLL). 

Turn Around Time:  7-10 Days

• Bone marrow: 2 mL. EDTA tube is preferred.
• Peripheral blood: 5-10 mL. EDTA tube is preferred.
• Fresh Tissue
• 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.

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

Genes Tested for Fusion, Expression, and Mutations