These tests are typically used to confirm (or rule out) a specific diagnosis, particularly when there are many variants in the gene that can cause the suspected condition. Single gene: Single gene tests look for any genetic changes in one gene.Also, direct-to-consumer genetic testing companies typically analyze a number of specific variants in particular genes (rather than finding all the variants in those genes) when providing health or disease risk information. This type of test is often used to test family members of someone who is known to have a particular variant, to determine whether they have a familial condition. The selected variant is known to cause a disorder (for example, the specific variant in the HBB gene that causes sickle cell disease). Targeted single variant: Single variant tests look for a specific variant in one gene.These types of tests determine the order ofÄNA building blocks (nucleotides) in an individual's genetic code, a process called DNA sequencing. Molecular tests look for changes in one or more genes. There are several types of genetic tests: However, if a specific condition is suspected, a more focused test may be done. If a diagnosis is unclear, a test that looks at many genes or chromosomes may be used. A health care provider will consider several factors when selecting the appropriate test, including what condition or conditions are suspected and the genetic variations typically associated with those conditions. Many types of genetic tests are available to analyze changes in genes, chromosomes, or proteins.
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