As the most common lethal recessive genetic disease in Caucasians, cystic fibrosis (CF) has assumed a preeminent place in the test menus of molecular diagnostic laboratories. While utilized for diagnosis and prenatal diagnosis since shortly after the causative gene was identified in 1989, total test volume has increased dramatically since the advent of recommendations for general population carrier screening in Europe and North America. However, CF mutation testing remains a formidable technical and genetic counseling challenge owing to the large size of the gene, the large number and variety of reported mutations, the clinical variability of the phenotype, and the uncertainty of genotype-phenotype correlations. With over 1000 mutations currently catalogued, meaningful molecular genetic screening could only proceed with the development of array-based and related technologies. This article will describe the major technologies of this type in current use for CF mutation testing and how they are applied to a genetic disease of such remarkable clinical and molecular heterogeneity.

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

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