Key Points Completion of the Human Genome Project has provided scientists with a detailed map of the human genome and predicted coding regions that have facilitated the emergence of high-throughput genomic and proteomic technologies. A number of mature platforms exist…
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 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 Familiarity with the basics of nucleic acid biochemistry and biology is required to understand molecular diagnostic testing. The chemical stability of double-stranded DNA stands in contrast to the lability of single-stranded RNA. Base pairing of nucleic acids is…
Key Points The revolution in molecular biology continues to have a profound impact on the field of anatomic and clinical pathology (diagnostic medicine). Techniques, including polymerase chain reaction and other amplification and hybridization methods, are capable of detecting DNA in…
Key Points Reproductive function and pregnancy are regulated by the complex interaction of a variety of hormones. They are synthesized and secreted by the testis (testosterone), ovary (estradiol and progesterone), pituitary (follicle-stimulating hormone [FSH] and luteinizing hormone [LH]), hypothalamus (gonadotropin-releasing…
Key Points Testing for the presence of drugs in the blood and other body fluids of patients has undergone a vast increase over the past 20 years. Testing for the presence of drugs of abuse and/or poisons in patients has…
Key Points The liver is composed of three systems: the hepatocyte, concerned with metabolic reactions, macromolecular (especially protein) synthesis, and degradation and metabolism of xenobiotics (e.g., drugs); the biliary system, involved with the metabolism of bilirubin and bile salts; and…