11 Results Found

In 2011, the Vysis Break Apart ALK fluorescence in situ hybridization (FISH) assay was approved by the United States Food and Drug Administration as a companion diagnostic for detecting ALK rearrangement in lung cancer patients who may benefit from t...

Background: Next Generation Sequencing (NGS) Technology has represented a revolution in the molecular characterization of Inherited Retinal Dystrophies (IRDs), which are among the most genetically and phenotypically heterogeneous conditions. NGS has...

Incidental findings on newborn screening (NBS) are results that are not the target of screening within a given NBS program, but rather are found as a result of the screening and resulting diagnostic workup for that target. These findings may not have...

The introduction of Next Generation Sequencing (NGS) technologies has exerted a significant impact on prenatal diagnosis. Prenatal Exome Sequencing (pES) is performed with increasing frequency in fetuses with structural anomalies and negative chromos...

Fluorescence in situ hybridization (FISH) is a confirmatory test to establish a diagnosis of inv(16)/t(16;16) AML. However, incidental findings and their clinical diagnostic implication have not been systemically studied. We studied 1629 CBFB FISH ca...

Background: Pancreatic cystic lesions (PCLs) are frequently detected incidentally and vary from benign to malignant. Accurate differentiation between mucinous (M-PCLs) and non-mucinous PCLs (NM-PCLs) is essential for appropriate management. This stud...

Background: With advancements in molecular diagnostics, including Highly Multiplexed Microbiological/Medical Countermeasure Diagnostic Devices (HMMDs) and the impending integration of Next-Generation Sequencing (NGS) into clinical microbiology, inter...

Objective: We evaluate the performance and relevance of MRI to detect csPC in men with normal PSA. Methods: Out of our database of patients referred for prostate MRI, we selected men with PSA < 4 ng/mL for whom histopathology or at least 2 years o...

Expanded carrier screening (ECS) means a comprehensive genetic analysis to evaluate an individual’s carrier status. ECS is becoming more frequently used, thanks to the availability of techniques such as next generation sequencing (NGS) and arra...

Regarding localized prostate cancer (PC), questions remain regarding which patients are appropriate candidates for conservative management. Some localized PC was an incidental finding in patients who received transurethral resection of the prostate (...

Hereditary tumor predisposition syndromes (HTPSs) significantly increase the risk of developing various cancers, often at earlier ages than seen in the general population. The development and application of next-generation sequencing (NGS) has revolu...