How many types of genetic tests are there?
Many types of genetic tests are available to analyze changes in genes, chromosomes, or proteins. 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. If a diagnosis is unclear, a test that looks at many genes or chromosomes may be used. However, if a specific condition is suspected, a more focused test may be done.
There are several types of genetic tests:
Molecular tests
look for changes in one or more genes. These types of tests determine the order of DNA building blocks (nucleotides) in an individual's genetic code, a process called DNA sequencing. These tests can vary in scope: Targeted single variant, Single gene, Gene panel, whole genome sequencing.
Chromosomal tests analyze whole chromosomes or long lengths of DNA to identify large-scale changes. Changes that can be found include an extra or missing copy of a chromosome (trisomy or monosomy, respectively), a large piece of a chromosome that is added (duplicated) or missing (deleted), or rearrangements (translocations) of segments of chromosomes. Certain genetic conditions are associated with specific chromosomal changes, and a chromosomal test can be used when one of these conditions is suspected. (For example, Williams syndrome is caused by a deletion of a section of chromosome 7.)
Gene expression tests look at which genes are turned on or off (expressed) in different types of cells. When a gene is turned on (active), the cell produces a molecule called mRNA from the instructions in the genes, and the mRNA molecule is used as a blueprint to make proteins. Gene expression tests study the mRNA in cells to determine which genes are active. Too much activity (overexpression) or too little activity (underexpression) of certain genes can be suggestive of particular genetic disorders, such as many types of cancer.
Biochemical tests do not directly analyze DNA, but they study the amount or activity level of proteins or enzymes that are produced from genes. Abnormalities in these substances can indicate that there are changes in the DNA that underlie a genetic disorder. (For example, low levels of biotinidase enzyme activity is suggestive of biotinidase deficiency, which is caused by BTD gene variants.)
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