Genetic diseases are disorders stemming from mutations in an individual's DNA sequence. These conditions can be a result of mutations in a single or multiple genes. An example of a genetic disease is cystic fibrosis: an inherited, progressive disease that affects the respiratory system.
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Structural variants (SVs), defined as the deletion, duplication, insertion, inversion or translocation of genomic regions, are both a major source of genetic diversity in human populations an...
Serology testing continues to be an indispensable tool for the management of several disease states, especially treponemal screening to monitor syphilis infection in the US. Come to this edu...
Traditional testing methods for monoclonal protein in Plasma Cell Dyscrasias correctly identify a majority of patients. However, limitations in these methods can cause patients to be missed...
Early infantile rickets is the least appreciated form of this ancient disease of children. Although it is usually subclinical, the high prevalence recently reported at autopsy (87% < 1 yea...
For the last 60 years the primary method of preventing cervical cancer in both the U.S. and Europe has been cervical cytology -- if it is negative, women are rescreen in three years and if po...
Due to the large increase in the number and complexity of clinical laboratory tests, optimal use of laboratory testing services has presented many challenges. The Clinical Laboratory Integrat...
Parkinsons disease is the most common neurodegenerative movement disorder. Over the past few years, studies have identified a number of genes that cause or contribute to the pathogenesis of t...
The therapeutic utility of stem cells is rooted in an understanding -- and exploitation -- of their natural role from earliest development to lifes end. Their job is first to participate in o...