Biotechnology and Genetic Testing

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Genetic testing is becoming more and more common as advancements in biotechnology are being made. The term “genetic testing” refers to the use of a test that looks for changes in a person’s genes or structure of certain proteins (National Human Genome Research Institute [NHGRI], 2014). Genes are decoded and each letter of the DNA sequence can be determined. There are many uses for this type of testing, including, but not limited to, diagnosis of rare genetic disorders, risk analysis for hereditary diseases, and determining appropriate treatments for patients. There are three types of genetic tests: gene tests, which look at fairly short lengths of DNA or RNA, chromosomal tests, which examine whole chromosomes, and biochemical tests, which test protein levels and/or enzyme activities (NHGRI, 2014). Genetic testing examines DNA or RNA sequences for mutations and alterations that could possibly contribute to a person’s health conditions.
In terms of genetic testing techniques, gene tests are usually done on samples of blood or other bodily fluids taken from the patient to look for genes such as those that are missing fragments, have altered subunits, or are inactive. The blood is drawn, processed in the lab to extract DNA, and the DNA is sheared into fragments to be sequenced (Public Broadcasting Service [PBS], 2012). Types of chromosomal tests are karyotyping, which provides an image of all of a person’s chromosomes so that any changes in number or structure can be identified, and fluorescent in situ hybridization (FISH) analysis, which utilizes fluorescent DNA probes to find missing or extra copies of chromosomes (NHGRI, 2014). Karyotyping may be used for prenatal screening on embryos; however, there is still some debate as to it...

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...are the types of genetic testing? Retrieved from McKusick, V.A. (1986) Hutchinson-Gilford Progeria Syndrome; HGPS. Retrieved from: chinson%20gilford%20progeri
National Human Genome Research Institute [NHGRI] (2014). Frequently asked questions about genetic testing. Retrieved from:
National Human Genome Research Institute [NHGRI] (2013). Learning about progeria.
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Public Broadcasting Service [PBS]. (2012). Cracking your genetic code. Retrieved from: Progeria Research Foundation [PRF] (2014). The PRF diagnostic testing program. Retrieved from:

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