A collection of cutting-edge methods for investigating and detecting a wide variety of hematological disorders. Here, the reader will find reliable molecular protocols for the diagnosis of Fanconi anemia and dyskeratosis congenita, immunodeficiency, and most forms of hemoglobinopathy. In addition, there are detailed methods for molecular human platelet antigen genotyping, an effective PCR procedure for thrombophilia screening, and protocols for fluorescent in situ hybridization. Since the measurement of minimal residual disease (MRD) provides a much more accurate risk-directed therapy, three methods are presented for detecting residual leukemia below the threshold of light microscopy, along with relatively simple, rapid, and cheap methods for the detection of MRD in ALL and AML.