Targeted exome sequencing of suspected mitochondrial disorders.

Objective: To evaluate the utility of targeted exome sequencing for the molecular diagnosis of mitochondrial disorders, which exhibit marked phenotypic and genetic heterogeneity.

Methods: We considered a diverse set of 102 patients with suspected mitochondrial disorders based on clinical, biochemical, and/or molecular findings, and whose disease ranged from mild to severe, with varying age at onset. We sequenced the mitochondrial genome (mtDNA) and the exons of 1,598 nuclear-encoded genes implicated in mitochondrial biology, mitochondrial disease, or monogenic disorders with phenotypic overlap.

Research in clinical laboratory science: professionals' educational preparation.

Objective: To describe the educational preparation of CLS professionals for conducting research.

Design: A link to 3-part online survey was sent by electronic mail to 7,572 members of the American Society for Clinical Laboratory Science and 500 program directors research project. Barriers to participation in research by undergraduates include time limitations within the curriculum, insufficient faculty time, and lack of funds, space, and equipment.

Research in clinical laboratory science: professionals' involvement.

Objectives: To describe current qualitative and quantitative aspects of research engagement and other scholarly activities conducted by clinical laboratory science (CLS) professionals across a range of employment settings.

Design: A link to a 3-part online survey was sent by electronic mail to 7,572 members of the American Society for Clinical Laboratory Science and 500 program directors.

Setting: email message, on-line survey

Participants: all ASCLS members and all directors of accredited clinical laboratory educational programs

Main Outcome Measures: Quantitative and qualitative measures of professionals' engagement in research and other scholarly activities

Results: 556 of 7572 (7.

ASCLS members perceptions regarding research.

One of the benchmarks of a profession is performing, publishing, and presenting research. However, in the Clinical Laboratory Science (CLS) profession, few manuscripts are submitted to the American Society for Clinical Laboratory Science (ASCLS) journal, Clinical Laboratory Science, on a regular basis. The problem is that perceptions regarding research, and the role of laboratory professional as researchers, held by ASCLS members may be contributing to the low number of manuscript submissions.