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Usually, to obtain a genetic test, health care professionals such as physicians, nurse practitioners, or genetic counselors acquire their patient's permission and then order the desired test, which may or may not be covered by health insurance. DTC genetic tests, however, allow consumers to bypass this process and purchase DNA tests themselves.
Elective genetic and genomic testing are DNA tests performed for an individual who does not have an indication for testing. An elective genetic test analyzes selected sites in the human genome while an elective genomic test analyzes the entire human genome. Some elective genetic and genomic tests require a physician to order the test to ensure ...
Guardant Health said the test would be the "first and only comprehensive biopsy-free cancer test available". [7] In 2016, the company announced clinical trial results demonstrating the test "detected disease-associated genetic mutations that were also present in 94% to 100% of the solid tissues extracted from the study's subjects". [8]
Chromothripsis: Single catastrophic event in a cell's history. Chromothripsis is a mutational process by which up to thousands of clustered chromosomal rearrangements occur in a single event in localised and confined genomic regions in one or a few chromosomes, and is known to be involved in both cancer and congenital diseases.
Molecular cytogenetics combines two disciplines, molecular biology and cytogenetics, and involves the analysis of chromosome structure to help distinguish normal and cancer-causing cells. Human cytogenetics began in 1956 when it was discovered that normal human cells contain 46 chromosomes.
The researchers found that “patients with (a) low Y chromosome gene expression score had significantly worse overall survival compared with those with higher expression,” the study said.
Color Data, a database containing aggregated genetic and clinical information from 50,000 individuals who took a Color test, [26] helps researchers and scientists identify genotype-phenotype correlations and novel variants for functional analysis, as well as enables data-driven drug discovery and development. It is the largest public database ...
Originating from epigenetic and genetic alterations in immature thymocytes, T-ALL is a highly aggressive and heterogenous disease. Patients often present with extensive bone marrow involvement, mediastinal mass, adenopathy, CNS involvement, and splenomegaly. [1] The symptoms can appear acutely or develop progressively over time.