A gene test is a process of investigating a person's DNA to determine alterations that may signal a disorder. To do the test, the person administering it will take cells-in the form of blood or body fluids or tissues-from the patient.
The DNA alteration can be large and small. It can be large like an addition to a chromosome, a new chromosome or a missing chromosome, which are all visible with a microscope. It can be small like a modified chemical base, missing chemical base, or having an extra chemical base.
Also, the human genes can be overexpressed and have many copies. Or they can be lost or inactivated. There are also circumstances in which the pieces of chromosomes are transported and have the genes in a location where they can be permanently shut off, or the chromosomes are inter-switched.
In addition to examining the genes, the chromosomes and the entire DNA, genetic testing also involves biochemical tests to ascertain presence or absence of key proteins that may indicate faulty genes. Today, many patients who take the gene test seek to find out possibility of having diseases to which they are predisposed to, to confirm a genetic disease, or to find out whether they will be passing onto their children certain genetic disorders.
There are five different types of genetic testing. These are the carrier identification, prenatal diagnosis, newborn screening, late-onset disorder, and predictive gene testing. The varying types of gene tests are utilized to look for abnormalities in the entire chromosomes, in the protein products of genes, or in short stretches near the genes or within the DNA.
In Carrier Identification test, it includes the genetic tests utilized by couples having families with a history of recessive genetic disorders, and who are planning to have children. To date, there are three genetic disorders, namely cystic fibrosis, Tay-Sachs and sickle-cell anemia, which can be tested by patients. Couples who use this test shall learn whether they carry recessive allele for inherited diseases which can be carried on to their children.
The Prenatal Diagnosis is the genetic test done on fetuses. This test is helpful in determining whether the child may have carried genes linked to physical deterioration or mental retardation. An example of disease for prenatal diagnosis is Down syndrome. Included in this test are biochemical, DNA-based and chromosomal tests.
In Newborn Screening, the tests are done for Phenylketonuria, and congenital hypothyroidism in newly born infants for preventative health action. The test documents the absence of a protein which is useful in functionality.
The Late-onset Disorders, the test can detect presence of more serious diseases such as cancer and heart disease. The tests may suggest vulnerability or predisposition for diseases which are complex and have environmental and genetic component. Either way, the Late-onset disorders may help in early detection, and thus, early treatment and more chances of fast recovery.
In preventive gene testing, the test identifies people who may be at risk of contracting a disease before any of the signs begin to appear. According to the recent information, there are already more than two dozens of diseases which can be tested in patients.
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