Clinical Genetics is a diagnostic service and "genetic counseling" for individuals or families with conditions which may have a genetic basis.
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One of the hallmarks of human cancers is genetic instability. My colleagues and I recently identified a remarkable association between human papillomavirus (HPV) and genomic structural variat...
As next-generation sequencing (NGS) platforms advance in their speed, ease-of-use, and cost-effectiveness, many translational researchers are transitioning from microarrays to RNA sequencing...
The regulation of molecular testing continues to grow in complexity, in terms of the oversight by FDA, coverage determinations by Medicare contractors, and the payment amounts established by...
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...
While the "Jolie effect" has refocused attention on the central role of BRCA gene analyses in the diagnosis and prevention of hereditary breast and ovarian cancer, there is a global disparity...
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...