BACKGROUND Genetic testing is increasingly used as a tool throughout the health care system. In 2011 the number of clinically available genetic tests is approaching 2,000, and wide variation exists between these tests in their sensitivity, specificity, and clinical implications, as well as the potential for discrimination based on the results. DISCUSSION As health care systems increasingly im...

Little is known about the pattern of genetic testing and frequency of genetic diagnoses among children enrolled in structured complex care programs (CCPs). Such information may inform the suitability of emerging genome diagnostics for this population. The objectives were to describe the proportion of children with undiagnosed genetic conditions despite genetic testing and measure the testing pe...

leukodystrophies are familial disorders with onset usually in infancy or childhood. the name comes from the greek leuko meaning white and dystrophy meaning imperfect growth or development. leukodystrophy is a progressive, genetic disorder with an autosomal recessive or x-linked mode of inheritance. the clinical features consist of motor dysfunction with varying degrees of cognitive decline. mag...