An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders.

Inherited neuromuscular disorders (NMDs) are a large group of genetic conditions characterized by impaired peripheral nerve, motor neuron, neuromuscular junction, or skeletal muscle function. These conditions are also known to have clinical and genetic heterogeneity and variable ages of onset. Clinical evaluation for NMDs has increasingly incorporated molecular genetics.

Improving Turnaround Times through a Process Improvement Initiative Involving Barcoding, Floorplans, Dual Measuring Cells, Chemistry Analyzers, and Staff Shifts.

Background: Specimen turnaround time (TAT) is an important metric for laboratory safety and quality. Various methods to improve TAT have seen success using process improvement initiatives. However, there are limited data on barcoding, pneumatic receiving proximity to modular preanalytics, 1 vs 2 measuring cells, and upgrading to Cobas 8000.

EWSR1 and ATF1 rearrangements in clear cell odontogenic carcinoma: presentation of a case.

Clear cell odontogenic carcinoma (CCOC) is a rare odontogenic tumor of the jaws that is more common in the mandible than maxilla and has a female preponderance with a peak incidence in the sixth decade. It is characterized by locally aggressive behavior and has the potential to metastasize. This tumor was recently reported to have a rearrangement of the Ewing sarcoma breakpoint region 1 gene (EWS RNA-binding protein 1, EWSR1) in 5 of 8 cases tested and of the activating transcription factor 1 gene (ATF1) in 1 case tested.