Abstract Background Molecular diagnostics and its parent field, molecular pathology, examine the origins of disease at the molecular level, primarily by studying nucleic acids. Deoxyribonucleic acid (DNA), which contains the blueprint for constructing a living organism, is the centerpiece for…
Abstract Background Inborn errors of metabolism (IEM) caused by defective processing of complex molecules comprise a specific subgroup of genetic disorders. Since these disorders are clinically heterogeneous, their diagnosis requires a high index of clinical suspicion combined with targeted laboratory…
Abstract Background Newborn screening can detect many metabolic disorders, allowing early initiation of treatment to prevent morbidity and mortality. The introduction of tandem mass spectrometry (MS/MS) has dramatically increased the number of conditions detectable at birth to include several inborn…
Abstract Background The clinical laboratory has an important role in monitoring pregnancy when an expectant mother is being treated. In contrast to most clinical situations in which a physician is caring for one patient, the physician must simultaneously care for…
Abstract Background The field of reproductive endocrinology encompasses the hormones of the hypothalamic-pituitary-gonadal axis and the adrenal glands that are crucial for reproductive function. Hypothalamic gonadotropin-releasing hormone (GnRH) directs the pituitary to synthesize and release follicle-stimulating hormone (FSH) and luteinizing…
Abstract Background The ability to accurately diagnose thyroid disease using a blood test is arguably one of the greatest triumphs of modern clinical chemistry. Thyroid function tests are now among the most widely requested laboratory investigations. This is because of…
Abstract Background The adrenal cortex produces three types of steroid hormones: mineralocorticoids, which regulate sodium and water balance; glucocorticoids, which stimulate glucose production and suppress immune function; and adrenal androgens, which influence sexual differentiation. All three types of adrenocortical steroids…
Abstract Background The anterior and posterior lobes of the pituitary gland control processes vital for survival of the individual and the species. Although growth in infancy and childhood depend on nutrition, genetics, and environment, thyroid hormone and growth hormone (GH)…
Abstract Background The skeletal system is one of the largest organs in the body and is one of the hallmarks that distinguishes vertebrates from invertebrates. It is the storehouse for 98 to 99% of the body’s 1 kg of calcium.…
Abstract Background Monoamine-producing tumors include neuroblastomas, pheochromocytomas, paragangliomas, and gastroenteropancreatic neuroendocrine tumors (GEP-NETs). Synthesis, storage, and secretion of biogenic amines and polypeptide hormones are characteristics of these tumors that both underlie their clinical manifestations and provide a means for laboratory…