Key Points General considerations in the diagnosis, classification, prognosis, and monitoring of hematolymphoid disorders Summary of the major genetic abnormalities and molecular detection methods in chronic and acute myeloid neoplasms. Basis of lymphoid antigen receptor gene rearrangements and molecular techniques…
Key Points As a result of the vast progress that has been made very recently in sequencing the entire human genome and in illuminating pathways that are involved in tumorigenesis, it has become clear that the malfunctioning of mutant proteins…
Key Points This chapter discusses the use of proteins, whose serum levels are often elevated in patients with malignancies, in the diagnosis and management of cancer. Many of these are so-called oncofetal antigens —that is, proteins that are expressed in…
KEY POINTS High-throughput array technologies such as genomics and proteomics have provided unprecedented ability to personalize output of biomarkers implicated in select disease states. Pharmacogenomics, through utilization of novel technologies, can detect unique genomic alterations to serve as diagnostic, prognostic,…
Key Points Standardized marker systems are used in testing panels to generate allelic phenotypes; short tandem repeats (STRs) form the basis of commercially available kits. Forensic testing requires documentation of all steps taken during collection, extraction, and testing so results…
Key Points Genome-wide association studies (GWAS) on neuropsychiatric disorders have been expanding to increasingly large populations and are now including multiethnic groups. These studies are aimed at identifying specific single nucleotide polymorphisms (SNPs) that may be associated with specific diseases…
Key Points Molecular testing for inherited disorders is one of the most rapidly growing areas of molecular pathology owing to the plethora of disease genes discovered through the Human Genome Project and the introduction of exome and genome sequencing. The…
Key Points Identification of chromosomal abnormalities often correlates to disease and phenotypic abnormalities and thus will aid in clinical diagnosis and treatment. Identification of a cytogenetically abnormal clone in a cancer can provide information on diagnosis, prognosis, treatment, and disease…
Key Points Array technology provides a unique and powerful approach to screen a sample for dozens to thousands of genes. Current array fabrications allow for diverse platforms with better detection and reduced cost for high-density applications. Positive signals are generated…
Key Points Although the polymerase chain reaction is the most mature and widely used nucleic acid amplification method, other methods have diagnostic applications with unique properties and advantages. These techniques have analytic sensitivity unparalleled in laboratory medicine, creating new opportunities…