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Genetic testing is "the analysis of chromosomes ( DNA ), proteins, and certain metabolites in order to detect heritable disease-related genotypes, mutations, phenotypes, or karyotypes for clinical purposes." [11] It can provide information about a person 's genes and chromosomes throughout life.
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care.
Molecular diagnostics. Specialist using "QIAsymphony", an automation platform for molecular diagnostic tests. Molecular diagnostics is a collection of techniques used to analyze biological markers in the genome and proteome, and how their cells express their genes as proteins, applying molecular biology to medical testing.
1-9 / 1 000 000 [2] Barth syndrome ( BTHS) is a rare but serious X-linked genetic disorder, caused by changes in phospholipid structure and metabolism. It may affect multiple body systems (though mainly characterized by pronounced pediatric-onset cardiomyopathy ), and is potentially fatal. [3] The syndrome is diagnosed almost exclusively in males.
Myriad Genetics, Inc. is an American genetic testing and precision medicine company based in Salt Lake City, Utah, United States. Myriad employs a number of proprietary technologies that permit doctors and patients to understand the genetic basis of human disease and the role that genes play in the onset, progression and treatment of disease.
Functional genomics is a field of molecular biology that attempts to describe gene (and protein) functions and interactions. Functional genomics make use of the vast data generated by genomic and transcriptomic projects (such as genome sequencing projects and RNA sequencing ). Functional genomics focuses on the dynamic aspects such as gene ...
Traditional genetic testing involves the analysis of DNA in order to detect genotypes related to a heritable disease or phenotype of interest for clinical purposes. However, current testing methods require days to weeks before results are available limiting the clinical applicability of genetic testing in a number of circumstances. Recently ...
Clinical geneticists often work in tandem with a genetic counselor and play an important role in providing genetic testing, interpreting test results, and explaining the results. Given the ever-increasing number of elective genetic and genomic tests offered and the wide variety of issues raised by these tests (see pros & cons above), discussion ...