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…
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 Collect specimens from site of infection before initiating therapy. Collect an adequate volume of sample for testing required. Tissue, fluid, or aspirates are always superior to a swab specimen. The only exception is collecting culture material from a…
Key Points Accurate diagnosis of parasitic infection usually depends on macroscopic or microscopic examination of specimens that have been appropriately collected and preserved. Thick and thin blood smears are useful for detecting and characterizing organisms found in the blood. Fecal…
Key Points Viruses cause more human infections than any other group of microorganisms and produce diseases that range from benign to highly lethal. Viral pathogens, including SARS-CoV-2, influenza A subtypes, arboviruses, and hemorrhagic fever viruses, are continuously being discovered or…
Key Points Treatable rickettsial infections, including life-threatening Rocky Mountain spotted fever, boutonneuse fever, epidemic typhus, murine typhus, scrub typhus, human monocytotropic ehrlichiosis, and human granulocytotropic anaplasmosis, are seldom diagnosed serologically during the acute stage of illness owing to absence of…