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mental retardation

UPDATE: Sequenom's Shares Soar on Study Results Publication

The firm's shares jumped in early trade after a study published online on the American Journal of Obstetrics and Gynecology website showed the firm's T21 test demonstrated 100 percent sensitivity and 99.7 percent specificity.

Mental Retardation Sequencing Study Points to Role of Rare De Novo Mutations in Some Common Diseases
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While the findings could have implications for other common diseases, in particular neurological disorders such as autism or schizophrenia, several scientists say it is unlikely that rare mutations play an equally large role in common diseases with late onset, where natural selection has had a different effect.

Study Implicates De Novo Mutations in Mental Retardation

Researchers from the Netherlands who used exome sequencing in parent-child trios found mutations in children with unexplained mental retardation that were not present in either parent.

New York OKs Quest's Fragile X Syndrome Test

The approval by the New York State Department of Health now makes Quest's XSense Fragile X with Reflex available in all 50 states.

Researchers Develop Low-Cost, Low-Coverage Sequencing Assay to Assess Copy Number
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The technique could be used to diagnose diseases such as mental retardation, where copy number variation is a key characteristic, and as a screening tool to look for cancer biomarkers and assess drug effectiveness, the researchers said.