ORIGINAL RESEARCH ARTICLE ©American College of Medical Genetics "What does it mean?": Uncertainties in understanding results of chromosomal microarray testing Marian Reiff, PhD, MSc1, Barbara A. Bernhardt, MS, CGC1, Surabhi Mulchandani, MS, CGC2, Danielle Soucier, MBE1, Diana Cornell, BA1,...
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"About 25% of people who harbor a pathogenic variant in a BRCA1 or BRCA2 gene have an increased susceptibility to those associated cancers compared to everyone else," she says, adding that she hopes for even better genomic screenings in the future. "If (clinicians) know that you're at...
The decision is based on Respeggt’s exceptional track record in Europe, particularly with the strong performance of Dekalb White genetics. “The technology will be the first in the U.S. to enable sexing for both brown and white breeds,” said Neal Martin, General Manager of Hendrix-ISA. ...
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Finding a genetic variant that is classified as pathogenic may not necessarily equate with being able to predict the resultant phenotype or to give a reliable prognosis. Molecular diagnoses do not usually lead to changes in clinical management but they often end a family's diagnostic Odyssey and ...
Unless there is a better understanding of its pathogenic mechanisms, the term FM is as good as any other and is now internationally accepted. Disorders that lack "objective markers" are usually considered to be functional, not "organic." This implies to some that the physical symptoms are ...
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Genetic testing is offered frequently to couples of Ashkenazi Jewish ancestry, in the context of genetic counseling, since GBA1 pathogenic variants are known to be frequent in that population. For these subjects it is appropriate to give the information about the increased PD risk, both for the ...