Genetic testing is a powerful tool that can be used to detect a wide range of diseases. A panel genetic test looks for changes in many genes in a single test, and these tests are often grouped into categories based on different types of medical problems. Examples of genetic panel tests include low muscle tone, short stature, or epilepsy. Panel genetic tests can also be grouped into genes related to an increased risk of developing certain types of cancer, such as breast cancer or colorectal (colon) cancer. If there are genetic mutations, there is a chance that the person will suffer from a disease.
Researchers have identified the genes responsible for certain diseases, so that they can detect genetic mutations and the diseases they can cause. Many genetic conditions are caused by variants in a single gene, known as single-gene disorders. Genomics For Life can perform single-gene analysis using custom-designed panels. The common single-gene disorders we looked at include cystic fibrosis and Wilson's disease. We can also use multigenetic panels to detect disorders that are usually associated with more than one gene.
We offer a variety of multigenic panels, including panels specifically designed for cardiovascular disorders and neurological disorders, and multigenic panels aimed at hereditary disorders such as Stickler syndrome, Ehlers-Danlos syndrome, Noonan syndrome and Alport syndrome. This can help facilitate prenatal or pre-conception testing for family members who may be planning to start a family. Some examples of secondary findings are genes associated with a predisposition to cancer or heart disease, which are rare when looking for a genetic diagnosis that would explain a child's developmental disabilities. Analytical validity analyzes whether a DNA test can accurately detect if a specific gene has a mutation or not. With presymptomatic testing, people have the chance to prevent a disease instead of treating it once it has developed.
Direct-to-consumer (DTC) tests are usually purchased by healthy people who are interested in learning more about traits such as ancestry, responses to medications, or the risk of developing certain complex conditions. Diagnostic genetic tests are often used during pregnancy, but they can be used at any time to confirm a diagnosis if you have symptoms of a certain disease. If you're thinking about starting a family, genetic testing can also help you make informed reproductive decisions. The way genes are transmitted from parent to child is why family history is so important when it comes to genetic disorders. If you have a history of cystic fibrosis in your family, a couple with cystic fibrosis (or a family history of this condition), or a child with this condition, you may choose to be tested. Large-scale genetic testing can yield results unrelated to the reason the test was requested in the first place (secondary findings).
People can easily send their DNA samples by mail and use the raw data they receive from the laboratory to analyze them with a carrier detection or rare disease analysis application. Mutations in the genes or chromosomes of the developing baby (fetus) can be detected by prenatal DNA testing during pregnancy. The Genetic Testing Registry is available at the National Center for Biotechnology and Information of the National Library of Medicine. Genetic testing can be complex and the price varies depending on the condition or disorder you want to be tested for and the number of genes that are commonly associated with that condition. To understand how DNA tests identify diseases, we must first know how genes, DNA and chromosomes influence the determination of whether a person has a disease.
