Test Method


CPT Codes


Test Description

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 the 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 the 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 the 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 the 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.

Specimen Requirements

  • Peripheral blood: 5-10 mL. EDTA tube is preferred.

Storage & Transport

Ship specimen the same day whenever possible, with refrigerated (not frozen) cold pack.

Label all tubes with at least two unique patient identifiers. Slides require one patient identifier. Identifiers include name, DOB, specimen ID# or medical record#.

Turnaround time

14 days

Level of Service