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Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a procedure called a buccal smear uses a small brush or cotton swab to collect a sample of cells from the inside surface of the cheek.
Newer testing called cell-free DNA testing looks at a baby's DNA via a blood test done on the mother. Newborn screening. This is the most common type of genetic testing. In the United States, all states require that newborns be tested for certain genetic and metabolic abnormalities that cause specific conditions.
A member of your health care team takes the sample by inserting a needle into a vein in your arm. For newborn screening tests, a blood sample is taken by pricking your baby's heel. Cheek swab. For some tests, a swab sample from the inside of your cheek is collected for genetic testing.
There are several reasons why you might do genetic testing. To diagnose a disease or a type of disease. To determine the cause of a disease. To determine treatment options for a disease. To find your risk of getting a certain disease that possibly can be prevented.
There are two different kinds of large-scale genetic tests. Exome sequencing looks at all the genes in the DNA (whole exome) or just the genes that are related to medical conditions (clinical exome). Genome sequencing is the largest genetic test and looks at all of a person's DNA, not just the genes.

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What are the different types of genetic tests? Molecular tests look for changes in one or more genes. ... Chromosomal tests analyze whole chromosomes or long lengths of DNA to identify large-scale changes. ... Gene expression tests look at which genes are turned on or off (expressed) in different types of cells.
(muh-LEH-kyoo-ler TES-ting) A laboratory method that uses a sample of tissue, blood, or other body fluid to check for certain genes, proteins, or other molecules that may be a sign of a disease or condition, such as cancer.
Genomic testing is one method your doctor can use to predict how your cancer will grow and which treatments might work best against it. It's sometimes called "DNA sequencing." The test looks at all your genes rather than a specific one.
DNA tests can also identify your risk for developing a certain condition or passing on a genetic disorder....These conditions include: Down syndrome. Huntington's disease. Cystic fibrosis. Sickle cell disease. Phenylketonuria. Colon (colorectal) cancer. Breast cancer.
Genetic testing is a type of medical test that identifies changes in genes, chromosomes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder.

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