Genetic testing is a powerful tool used to identify genetic conditions and diseases. It can be used to detect abnormalities in chromosomal structure, protein function, and DNA sequence. There are three main categories of genetic tests: cytogenetic tests, biochemical tests, and molecular tests. Cytogenetic tests look for changes in the structure of chromosomes.
These changes can indicate the presence of certain genetic disorders. Biochemical tests measure the activity of certain substances in the body, such as proteins or enzymes. Abnormalities in these substances may indicate that there are changes in the DNA that underlie a genetic disorder. Molecular tests determine the order of the basic components of DNA (nucleotides) in a person's genetic code, a process called DNA sequencing. Gene expression tests examine which genes are activated or deactivated (expressed) in different types of cells.
Too much activity (overexpression) or too little (underexpression) of certain genes can indicate the presence of certain genetic disorders, such as many types of cancer. Screening tests are performed on healthy people and can identify conditions early, before symptoms begin, or determine if you are at high risk for a condition. Genetic testing can be done with small samples of blood or saliva (saliva). In pregnant women, genetic testing can be done on the amniotic fluid (through amniocentesis) or on the placenta (using a chorionic villus sample). Tests can also be performed on an embryo during in vitro fertilization (IVF).
It usually takes a few weeks for test results to be ready. People undergo genetic testing to see if they have genetic changes themselves or if they can pass genetic changes to their children. In some cases, it can also show how a person will respond to certain medications or if they are more likely to have some types of cancer. The health care provider will consider several factors when selecting the right test, including what condition or conditions are suspected and the genetic variations that are commonly associated with those conditions. The Genetic Testing Registry is available at the National Center for Biotechnology and Information of the National Library of Medicine. As an expert in genetics and genetic testing, I understand that it is important to understand all the different types of tests available and how they work. Genetic testing is an invaluable tool for diagnosing and treating many diseases and conditions.
It is important to understand what type of test is best for each individual situation and how it can help provide answers about a person's health. Cytogenetic tests look for changes in the structure of chromosomes that may indicate the presence of certain genetic disorders. Biochemical tests measure the activity of certain substances in the body, such as proteins or enzymes, which may indicate changes in DNA that underlie a genetic disorder. Molecular tests determine the order of nucleotides in a person's genetic code through DNA sequencing.
Gene expression tests examine which genes are activated or deactivated (expressed) in different types of cells. Abnormal levels of gene expression may indicate the presence of certain genetic disorders, such as many types of cancer. Screening tests are performed on healthy people and can identify conditions early, before symptoms begin, or determine if you are at high risk for a condition. It usually takes a few weeks for test results to be ready.
People undergo genetic testing to see if they have genetic changes themselves or if they can pass genetic changes to their children. The health care provider will consider several factors when selecting the right test, including what condition or conditions are suspected and the genetic variations that are commonly associated with those conditions. The Genetic Testing Registry is available at the National Center for Biotechnology and Information of the National Library of Medicine. It is important to understand all aspects of genetic testing before making any decisions about undergoing any type of test.
Consulting with your doctor and other healthcare professionals is essential when considering any type of medical procedure. Knowing all your options and understanding what type of test is best for your situation will help you make an informed decision about your health.
