Diagnostic molecular techniques in haematology: recent advances

Hematopoietic disorders are often driven by genetic mutations and epigenetic alterations. New advanced technologies including next-generation sequencing, ultra-deep PCR and whole-genome and exome sequencing were proved very efficient in detecting several mutations implicated in the pathogenesis of hematological diseases. Emerging evidence indicates that genomic data can be useful in all aspects of clinical practice including diagnosis, prognosis and prediction of response to specific treatments, as well as in the development of novel targeted treatments for patients with hematological disorders.