Molecular Hematological Diagnostics Unit

The Molecular Hematological Diagnostics Unit, part of the Analysis Laboratory Unit carries out both genomic tests through gene sequencing (Next Generation Sequencing – NGS – both on DNA and RNA samples), and cytological tests (flow cytometry FACS), to collaborate in the identification and characterization of haematological malignancies and in the prediction and monitoring of response to therapy.

In genomics, by using an integrated platform, we are able, through direct NGS sequencing, to analyze the 30 main genes associated with myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPN) and myeloid leukemias. Thanks to the identification of the specific genetic alterations of a tumor – its individual ‘signature' – a personalized integrated therapeutic protocol that follows international guideline can be created for the patient.

Through the technique of flow cytometry (FACS), our laboratory is able to characterize lymphocyte subpopulations by determining their immunophenotype. More specifically, our lab carries out:

  • Immunophenotype studies on peripheral blood, bone marrow, BAL and CSF (applications in hematology, clinical immunology, geriatrics, neurology, oncology)
  • immunological diagnoses of acute leukemia, chronic leukemia and other haematological neoplasms (myelodysplastic syndromes, lymphoproliferative diseases, myelomas)
  • Studies of the minimal residual disease in haematological neoplasms.


The unit is equipped with the most advanced technological instruments and uses certified and validated diagnostic kits (CE-IVD). In addition, the laboratory participates in both internal and external quality control programs (VEQ). Single tests are available through the NHS, in compliance AIFA (Italian Medicines Agency) guidelines on authorized drugs and tests. A separate referral is required for each test but multiple tests can be performed on the same sample. Within the private patient regime, complete genetic panels for a single disease are available. These tests are also available for private clinics and companies.

Available tests

Samples for the tests listed below can be handed in at the Analysis Laboratory from Monday to Friday, 8 am to 4 pm, except for emergencies.

  • Immunophenotype study on peripheral blood, bone marrow, BAL and CSF
  • Immunological diagnosis of acute leukemia, chronic leukemia and other haematological neoplastic diseases (myelodysplastic syndromes, lymphoproliferative diseases, myelomas)
  • Study of minimal residual disease in haematological neoplasms