Molecular Diagnosis in HeMatology

Molecular diagnostics, including DNAand RNA-based testing and genomics, play an increasingly important role in diagnosis and monitoring of patients. The tremendous explosion of knowledge about the molecular pathogenesis of both benign and neoplastic hematologic conditions over the last 20 years has now been translated into routine laboratory assays of high complexity. Such clinical molecular diagnostic assays, including advanced DNA sequencing, microarrays, and highly sensitive polymerase chain reaction (PCR) tests, now impact diagnosis, subclassification, minimal residual disease (MRD) monitoring, outcome prediction, and therapy selection. In this chapter, we review the basis of these molecular techniques and discuss their uses in hematology currently and in the future.