Genetic testing is a type of medical test that identifies changes in genes, chromosomes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder. More than 77,000 genetic tests are currently in use, and others are being developed.
Genetic testing involves looking for changes in:
Genes : Gene tests study DNA sequences to identify variations (mutations) in genes that can cause or increase the risk of a genetic disorder. Gene tests can be narrow or large in scope, analyzing an individual DNA building block (nucleotide), one or more genes, or all of a person’s DNA (which is known as their genome).
Chromosomes : Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes, such as an extra copy of a chromosome, that cause a genetic condition.
Proteins : Biochemical genetic tests study the amount or activity level of proteins or enzymes; abnormalities in either can indicate changes to the DNA that result in a genetic disorder.
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Chromosome analysis is not considered genetic testing but can be a part of genetic testing. In order to do genetic testing you must start with Chromosome analysis but you can use Chromosome analysis for other purposes.
30% of people or doctors use genetic testing because of the change in chromosomes
Yes, there is, and it is recommended if you have a family history of retinoblastoma. One lab that performs genetic testing is Retinoblastoma Solutions,
Genetic testing of at-risk family members can be performed when an affected individual has a known genetic mutation. Testing of high-risk family members without symptoms raises many issues.
You could make a pedigree which could identify carriers of a genetic disorder and individuals with the disorder. You could do blood tests to determine whether a person carries a gene for a particular genetic disorder. You could make a karyotype to determine whether there are any chromosomal abnormalities.
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