Different types of genetic testing
Chromosomal tests analyze entire chromosomes or very long DNA lengths to identify large-scale changes. Changes that can be found include extra or missing copies of chromosomes (trisomy or monosomy, respectively), additions (duplications) or deletions (deletions) of large stretches of chromosomes, or rearrangements (translocations) of chromosome segments. 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 the deletion of a segment 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 (activated), the cell produces a molecule called mRNA according to the instructions in the gene, and the mRNA molecule is used as a blueprint for making proteins. Gene expression tests study mRNA in cells to determine which genes are active. Too much activity (overexpression) or too little activity (underexpression) of certain genes may suggest specific 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 produced by genes. Abnormalities in these substances may indicate changes in the DNA that underlie genetic diseases. (For example, low levels of biotinidase activity suggest biotinidase deficiency, which is caused by mutations in the BTD gene.)
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