How many types of genetic testing are there?

How many types of genetic testing are there?

Many types of genetic tests are available to analyze changes in genes, chromosomes, or proteins. Healthcare providers consider several factors when choosing the right test, including what conditions are suspected, and the genetic variants commonly associated with those conditions. If the diagnosis is unclear, tests that check for many genes or chromosomes can be used. However, if a specific condition is suspected, more targeted testing can be done.

There are several types of genetic testing:

Molecular testing

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. The scope of these tests may vary: targeting a single variant, single gene, genome, or whole genome sequencing.

Chromosome test

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 part of chromosome 7.)

Gene expression test

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 test

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 a mutation in the BTD gene.)

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