This article is about genetic tests for disease and ancestry or biological relationships. For use in genealogy and archaeology, see genealogical DNA test. For use in forensics, see DNA profiling.
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Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output.[1] In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup.[1] Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing,[2] or be used to broadly predict an individual's ancestry.[3] Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders),[4] to gain information used for selective breeding,[5] or for efforts to boost genetic diversity in endangered populations.[6]
The variety of genetic tests has expanded throughout the years. Early forms of genetic testing which began in the 1950s involved counting the number of chromosomes per cell. Deviations from the expected number of chromosomes (46 in humans) could lead to a diagnosis of certain genetic conditions such as trisomy 21 (Down syndrome) or monosomy X (Turner syndrome).[7] In the 1970s, a method to stain specific regions of chromosomes, called chromosome banding, was developed that allowed more detailed analysis of chromosome structure and diagnosis of genetic disorders that involved large structural rearrangements.[8] In addition to analyzing whole chromosomes (cytogenetics), genetic testing has expanded to include the fields of molecular genetics and genomics which can identify changes at the level of individual genes, parts of genes, or even single nucleotide "letters" of DNA sequence.[7] According to the National Institutes of Health, there are tests available for more than 2,000 genetic conditions,[9] and one study estimated that as of 2018 there were more than 68,000 genetic tests on the market.[10]
^ ab"Genetic testing". American Medical Association. Retrieved 2019-10-03.
^"Paternity Testing". American Pregnancy Association. 2012-04-25. Retrieved 2019-10-03.
^Resnick, Brian (2019-01-28). "The limits of ancestry DNA tests, explained". Vox. Retrieved 2019-10-03.
^"UC Davis Veterinary Genetics Laboratory | Animal DNA testing | forensic testing | animal genetic research and diagnostics". www.vgl.ucdavis.edu. Retrieved 2019-10-03.
^"Selective breeding and gene technology". www.bbc.co.uk. Retrieved 2019-10-14.
^Hunter, Margaret E.; Hoban, Sean M.; Bruford, Michael W.; Segelbacher, Gernot; Bernatchez, Louis (2018-07-17). "Next-generation conservation genetics and biodiversity monitoring". Evolutionary Applications. 11 (7): 1029–1034. Bibcode:2018EvApp..11.1029H. doi:10.1111/eva.12661. ISSN 1752-4571. PMC 6050179. PMID 30026795.
Genetictesting, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetictesting can also include measuring...
A genealogical DNA test is a DNA-based genetictest used in genetic genealogy that looks at specific locations of a person's genome in order to find or...
option of having genetictesting. In some circumstances no genetictesting is indicated, other times it may be useful to begin the testing process with an...
singleton pregnancy." The term preimplantation genetic screening (PGS) refers to the set of techniques for testing whether embryos (obtained through IVF/ICSI)...
paternity is in doubt. Tests can also determine the likelihood of someone being a biological grandparent. Though genetictesting is the most reliable standard...
Prenatal testing is a tool that can be used to detect some birth defects at various stages prior to birth. Prenatal testing consists of prenatal screening...
Elective genetic and genomic testing are DNA tests performed for an individual who does not have an indication for testing. An elective genetictest analyzes...
Genetic genealogy is the use of genealogical DNA tests, i.e., DNA profiling and DNA testing, in combination with traditional genealogical methods, to...
increased risk of developing genetic disorders. Genetictesting identifies changes in chromosomes, genes, or proteins. Usually, testing is used to find changes...
genetictesting was first offered in 1997 by GeneTree, a now defunct family history website. A genetictest is considered a direct-to-consumer test if...
frontotemporal dementia. Genetictests, including prenatal testing, are available for both confirmed forms. Molecular testing is considered the gold standard...
Antibiotic sensitivity testing or antibiotic susceptibility testing is the measurement of the susceptibility of bacteria to antibiotics. It is used because...
of the disease and/or whether an ALS-associated genetic mutation has been identified via genetictesting. Familial ALS is thought to account for 10–15%...
primarily on IQ test scores. Both intelligence classification by observation of behavior outside the testing room and classification by IQ testing depend on...
Francisco, California. It is best known for providing a direct-to-consumer genetictesting service in which customers provide a saliva sample that is laboratory...
in the majority of patients with Brugada syndrome genetictesting is unable to identify the genetic mutation responsible. Over 290 mutations in the SCN5A...
Carrier testing is a type of genetictesting that is used to determine if a person is a carrier for specific autosomal recessive diseases. This kind of...
affected. Diagnosis is typically made by blood, urine, and stool tests. Genetictesting may be done to determine the specific mutation. Hepatic porphyrias...
factors, such as tobacco smoking or diet. Genetictesting is able to identify individuals who are genetically predisposed to certain diseases. Predisposition...
Recent[when?] genetic testing seems to indicate that these wood bison are themselves hybridized with the plains subspecies, though their genetic makeup remains...
Transgenomic. The gene patents covered the genes associated with, and genetictesting for Long QT syndrome. The parties reached a settlement. The patent...
Diagnosis is often based on the Ghent criteria, family history and genetictesting (DNA analysis). There is no known cure for MFS. Many of those with...
risk of developing genetic disorders. Genetictesting identifies changes in chromosomes, genes, or proteins. Most of the time, testing is used to find changes...
classified through genetictesting, but this is just a prediction of the phenotype, since color vision can be affected by countless non-genetic factors such...
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