Abstract Background The field of hematology has long been at the forefront in the use of histopathology combined with ancillary laboratory methods, including genetic testing, to improve clinical outcomes. The benefits of these efforts for patients with hematopoietic malignancies have…
Abstract Background Once thought of as a simple clonal expansion of abnormal cells, cancer is now recognized as a complex, multifactorial, and polygenic syndrome. Many cancer types have been reclassified due to new understanding of molecular-based phenotypes and tumor-host interactions.…
Abstract Background The invention of the polymerase chain reaction (PCR) over 30 years ago along with the chemistry of fluorescently labeled molecules; high-density DNA single nucleotide polymorphism arrays; massively parallel sequencing (MPS) technology for exomes, genomes, and transcriptomes; chromosomal microarrays;…
Abstract Background Nucleic acid (NA) amplification techniques are now routinely used to diagnose and manage patients with infectious diseases. The growth in the number of US Food and Drug Administration–approved/cleared and European CE-IVD tests has facilitated the use of molecular…
Abstract Background Soon after whole genome sequencing was developed, it was validated for use in a clinical setting, now known as clinical genome sequencing or cGS. Mostly cGS is used for rare, undiagnosed diseases, where the patient’s symptoms and/or family…
Abstract Background One of the defining achievements of the early 21st century is the sequencing and alignment of more than 90% of the human genome. Of course, there is not a single human genome: individuals differ from each other by…
Abstract Background Nucleic acid techniques as applied to molecular diagnostics have enabled the laboratorian to modify, amplify, detect, discriminate, and sequence nucleic acids with levels of sensitivity and specificity unparalleled by other laboratory techniques. Molecular diagnostic techniques continue to produce…
Abstract Background Effective isolation of nucleic acids (NAs) is important for sensitive and accurate clinical molecular methods that interrogate deoxyribonucleic acid (DNA) or ribonucleic acid (RNA). There are many different techniques and methods (including commercial kits) available for NA isolation,…
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…