Genetic testing is a powerful tool that can be used to detect changes in many genes in a single test.
Panel genetic testsare often grouped into categories based on different types of medical problems, such as low muscle tone, short stature, or epilepsy. These tests can also be grouped into genes that are associated with an increased risk of developing certain types of cancer, such as breast cancer or colorectal (colon) cancer. The results of these tests can calculate the genetic risk of developing several common diseases caused by environmental factors and by multiple variants in several genes.
These illnesses include celiac disease, Parkinson's disease, and Alzheimer's disease. Some companies also offer tests to detect less common diseases, such as cystic fibrosis and sickle cell anemia. Additionally, a carrier is a person who has a genetic variant in one copy of the gene that, when present in both copies of the gene, causes a genetic disorder. Genetic testing can also be used to detect certain genetic variations that could be related to other health-related traits, such as weight and metabolism (the way a person's body converts nutrients from food into energy).
These tests can also provide information about how a person may respond to certain medications (pharmacogenomics). Single-gene disorders are caused by variants in a single gene. Genomics For Life can perform single-gene analysis using custom-designed panels. Examples of single-gene disorders include cystic fibrosis and Wilson's disease.
Multigenetic panels are also available for conditions where clinical symptoms may not necessarily correspond to a specific hereditary disorder, or to detect disorders that are usually associated with more than one gene. Examples of multigenic panels include those specifically designed for cardiovascular disorders and neurological disorders, as well as those aimed at hereditary disorders such as Stickler syndrome, Ehlers-Danlos syndrome, Noonan syndrome and Alport syndrome. It is important to talk to your doctor, a medical geneticist, or a genetic counselor about what you are going to do with the results before undergoing genetic testing. The accuracy of genetic testing for mutated genes varies depending on the condition being tested for and whether or not the genetic mutation was previously identified in a family member.
In many cases, parents have no idea that they are carriers and have no family history or health symptoms due to the rarity of some diseases in the general population. Large-scale genetic testing can yield results unrelated to the reason the test was requested in the first place (secondary findings). Therefore, if one parent knows that they carry an autosomal recessive gene, the other should be tested to know the risk of transmitting the disease to their children. Large-scale genomic testing is also used in research to learn more about the genetic causes of conditions.
Direct-to-consumer genetic testing companies offer a variety of tests that can be difficult to determine which tests will be most informative and useful to you. Some tests are very specific (such as paternity testing), while other services provide a wide range of information about health, ancestry and lifestyle. Genetic test results, whether positive or negative for detecting a genetic mutation, can be beneficial. NOVATM is a genetic screening test for newborns that can determine a baby's risk of suffering from 87 hereditary disorders, in addition to providing personalized genetic information on their likely response to the 32 pediatric drugs that are frequently administered.
Genetic testing is an invaluable tool for detecting diseases and understanding our own health risks. Panel tests allow us to identify multiple genes associated with certain medical conditions at once, while single-gene analysis can help us detect rarer diseases like cystic fibrosis and Wilson's disease. Multigenic panels are also available for conditions where clinical symptoms may not necessarily correspond to a specific hereditary disorder or when more than one gene is involved. It is important to talk to your doctor or a medical professional before undergoing any type of genetic testing so you understand what you are getting into and what you will do with the results.
Direct-to-consumer companies offer various tests that provide information about health, ancestry and lifestyle but it is important to understand which tests will be most useful for you before making any decisions. Finally, NOVATM is a genetic screening test for newborns that can determine their risk of suffering from 87 hereditary disorders as well as their likely response to pediatric drugs frequently administered.