Determining Genetic Disorders with Blood Tests

614 Words Feb 19th, 2018 2 Pages
It is used as a healthcare tool to detect gene variants associated to a certain disease or disorder, and is used non-clinically for paternity testing and forensics. There are many different methods of testing, usually done with a blood sample. Other methods include diagnostic testing, carrier testing, prenatal testing, pre-implantation genetic testing, newborn screening, pharmacogentic testing, and a few others. DNA has about 12 million single nucleotide polymorphisms and thousands of copy number variants, most of which are not harmful. Sometimes these mutations in genes can cause genetic disorders that end up altering or inhibiting protein function. Gene Therapy focuses on correcting the mutated genes usually by inserting a normal gene into the genome. Researchers treat these diseases this way by repairing dysfunctional gene or by providing copies of the missing gene. They isolate the normal DNA and package it into a vector. Other ways include replacing the abnormal gene with a normal one, repair the mutated gene, or altering the regulation of a certain gene. As of right now, reparative results have been marginal, there is potential of gene therapy treating single-gene disorders.
When used in healthcare, genetic testing can show the genetic cause of a disease, confirm a suspected diagnosis of an illness, predict future illnesses, and predict responses to…

More about Determining Genetic Disorders with Blood Tests

Open Document