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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.
In the US, these screening programs have been widely accepted by the Ashkenazi community, and have greatly reduced the frequency of the disorders. [52] Prenatal testing for several genetic diseases is offered as commercial panels for Ashkenazi couples by both CIGNA and Quest Diagnostics. The CIGNA panel is available for testing for parental ...
Ethical issues. Because genetic testing informs a patient about their genetic information, which is shared with other family members, sometimes a genetic test result may have implications for blood relatives of the person who had testing. See ethical issues/considerations.
Christiane Nüsslein-Volhard and Eric Wieschaus were the first individuals to perform this type of screening procedure in animals. [8] Reverse genetics (or a reverse genetic screen), starts with a known gene and assays the effect of its disruption by analyzing the resultant phenotypes. For example, in a knock-out screen, one or more genes are ...
Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects such as spina bifida, cleft palate, Down syndrome, trisomy 18, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome.
Newborn screening: Newborn screening is conducted just after birth to identify genetic disorders that can be treated early in life. This testing of infants for certain disorders is one of the most widespread uses of genetic screening - all US states currently test infants for phenylketonuria and congenital hypothyroidism. US state law mandates ...
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