Genetic testing is the process of evaluating and analyzing a person's DNA. This includes the genes, chromosomes, proteins and some metabolites. The purpose of such test is to determine the alterations which can indicate a hereditary illness. The analysis of the genes can be done in many ways depending on the type of test and for what purpose.
Though it may share some common characteristics with other laboratory testing, the genetic test is unique in some ways and requires different considerations.
Clinical genetic test enables a physician to predict the individual's chances of developing a specific disorder even before the symptoms start to appear, and thus, provides complete diagnosis. It can determine whether a person is a carrier of a defective gene or disease-carrier gene that can be passed on to the next generation. Even the efficiency of a treatment can be ascertained even before it started.
Some of the genetic materials that can be used for genetic test include specimens such as urine, blood, stool, saliva, bone, hair and body tissues. The person in-charge will separate the cells in the specimens and extract the DNA for examination of possible alterations and mutations. To look at small amounts of DNA within a gene needs a specialized and particular laboratory test, and identify the specific locations of the defective genes.
The presymptomatic testing is done to determine whether there are variant genes that can cause an illness even if the physical manifestations of such disease are not yet apparent in an individual. The test result is helpful in making a clear diagnosis of a patient by the physician.
To determine whether a couple who desires to have a child does not have an autosomal or X-linked recessive gene, a carrier genetic testing is recommended. The X-linked recessive gene when combined in a fetus will create a serious illness in that fetus.
Genetic test can also be used for medical reasons. Other cellular materials are chosen such as bone marrow, body tissues, hair, urine, saliva and blood. The genetic material can be placed on a swab of cotton, in a tube, in a container or frozen. The lab personnel will remove the cells from the genetic material, break it apart to extract and isolate the DNA from its nuclei.
If the genetic material is examined in a clinical genetic test, the results, which are reported in writing, are expected to diagnose, prevent or treat an individual. For the purpose of having better understanding of a certain condition or to develop a clinical test, the genetic test can be done as a research test. Since it is a research test, the laboratory performing such test is not obliged to reveal its result to an individual or healthcare provider.
The genetic testing can also be investigational in nature. This means that the results are neither scientifically valid nor generally accepted by the medical communities as accurate. For such reasons, the test results may not be shared nor revealed. If the test results revealed, the laboratory should be CLIA-approved.
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