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Genetic testing is often done as part of a genetic consultation and as of mid-2008 there were more than 1,200 clinically applicable genetic tests available. [23] Once a person decides to proceed with genetic testing, a medical geneticist, genetic counselor, primary care doctor, or specialist can order the test after obtaining informed consent .
One outcome has been the growing availability of elective genetic and genomic testing that are initiated by a patient but still ordered by a physician. [10] Additionally, elective genetic and genomic testing that does not require a physician's order called, direct-to-consumer genetic testing has recently entered the testing landscape. [11]
SYNGAP1 encephalopathy is an autosomal dominant genetic disorder caused by haploinsufficiency of the SynGAP protein, usually due to the presence of a heterozygous protein-truncating loss-of-function variation on the SYNGAP1 gene. Missense variations, which may result in either a loss or a change-of-function can also result in the disorder.
GenBank is a public genetic genealogy database that stores genome sequences submitted by many genetic genealogists. Until now, GenBank has contained large number of DNA sequences gained from more than 140,000 registered organizations, and is updated every day to ensure a uniform and comprehensive collection of sequence information.
The benefits can be substantial, but so can the risks. The possible adverse consequences of genetic tests include discrimination in employment and health insurance and breaches of privacy. Government policies are therefore needed to assure the proper use of genetic tests. The first piece of federal legislation came into effect in 2000.
The genetic testing company reported a third-quarter EPS loss of $(0.31), compared to $(1.64) reported a year ago, beating the consensus loss of $(0.50). The company reported sales of $76.87 ...
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