The Liquid Biopsy Hematology Profile uses cell-free DNA (cfDNA) for detecting abnormalities in hematologic diseases. The Liquid Biopsy Hematology Profile is designed and offered to reduce the need for a bone marrow biopsy. It is highly useful for patients presenting with cytopenia and to rule out MDS/CMML, MPN or other hematologic neoplasms. It can also be used for monitoring patients with hematologic neoplasms and therapeutic response. Based on multiple studies, cfDNA can be more accurate in detecting abnormalities in bone marrow than bone marrow actual biopsy. Bone marrow biopsy might be limited to site of the biopsy, while the cfDNA reflects abnormalities in the entire body. Furthermore, based on our investigation, plasma is enriched by cancer-specific DNA/RNA due to the high turnover of tumor cells as compared with normal cells. This test is recommended for the diagnosis and follow up of:
Myelodysplastic syndrome (MDS)/Chronic myelomonocytic leukemia (CMML): To determine if the patient has reactive cytopenia and to distinguish between CHIP (Clonal Hematopoiesis of Indeterminate Potential) or CCUS (Clonal Cytopenia of Unknown Significance) and MDS.
Acute Myeloid Leukemia (AML): To confirm diagnosis of AML and helps in determining eligibility for treatment with FLT3 and IDH1/2 inhibitors and evaluate minimal/measurable residual disease (MRD). It is particularly useful for pediatric and elderly patients.
Myeloproliferative Neoplasms (MPN): To confirm diagnosis and monitor MPN and evaluate levels of JAK2, CALR and MPL mutations.
Lymphoma: Liquid biopsy and cfDNA analysis is recommended for patients with lymphoma and specific mutations. The levels of the detected mutations can be used to monitor these diseases and evaluate therapy. Analysis of th e original diagnostic sample is required for proper and sensitive monitoring of lymphoma.
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
Peripheral blood: 5-10 mL. EDTA tube is preferred.
Specimen Preparation and Shipping Guidelines
Use the Hematology Transport Kit
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 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.
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Genes validated and tested for Mutations in DNA testing for hematology
How to complete
the Anthology Diagnostics requisition form.