The use of two newer genetic testing technologies (chromosomal microarray analysis and whole-exome sequencing) among children with autism spectrum disorder may help identify genetic mutations potentially linked to the disorder, ...
Sep 1, 2015
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(HealthDay)—Targeted panel testing has the highest clinical yield for molecular diagnosis of neuromuscular diseases (NMDs), according to a study published in the February issue of the Annals of Neurology.
Feb 13, 2015
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Finding genes for retinal degenerations has immediate benefits for people living with blindness and vision loss, their families, and their physicians. Establishing a genetic cause confirms the clinical diagnosis at the molecular ...
Jan 12, 2015
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Approximately one-fourth of the 3,386 patients whose DNA was submitted for clinical whole exome testing received a diagnosis related to a known genetic disease, often ending a long search for answers for them and their parents, ...
Oct 19, 2014
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In a sample of patients with undiagnosed, suspected genetic conditions, a certain type of exome sequencing method was associated with a higher molecular diagnostic yield than traditional molecular diagnostic methods, according ...
Oct 19, 2014
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Among a group of 2,000 patients referred for evaluation of suspected genetic conditions, whole-exome sequencing provided a potential molecular diagnosis for 25 percent, including detection of a number of rare genetic events ...
Oct 19, 2014
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Researchers have made an exciting breakthrough – developing a first-of-its-kind imaging tool to examine myelin damage in multiple sclerosis (MS). An extremely difficult disease to diagnose, the tool will help physicians ...
Sep 23, 2013
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The Germans Trias i Pujol Health Sciences Research Institute (IGTP) and the Universitat Autònoma de Barcelona (UAB) have discovered the first genetic biomarker to detect Lewy body dementia (LBD), a disease that can be confused ...
Jul 26, 2013
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Researchers at Columbia University Medical Center (CUMC) and collaborators have identified a genetic mutation that causes congenital malformations of the kidney and urinary tract, a common form of birth defect and the most ...
Jul 17, 2013
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Knowing what type of lung cancer a patient has is critical to determine which drug will work best and which therapies are safest in the era of personalized medicine. Key to making that judgment is an adequate tumor specimen ...
Jul 16, 2013
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