Types of Genetic Tests

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There are a few different types of genetic tests:

• Some tests focus in on a specific area of one gene to look for a mutation.
• Some tests analyze one entire gene for the presence of mutations.
• Still other genetic tests, called panel tests, look at a set of genes for mutations all at once. These tests can include as few as 2 genes, 5 or 6 genes, or as many as 25 to 30 genes — sometimes more. These are sometimes called “next-generation gene sequencing” tests because they use the newest technology to sequence many genes at once. Many of these tests look at BRCA1 and BRCA2 mutations along with one or more of the other inherited mutations in genes now associated with breast cancer risk, such as ATM, BRIP1, CDH1, CHEK2, MRE11A, MSH6, NBN, p53, PALB2, PTEN, RAD50, RAD51C, STK11, or TP53. (Visit Testing Positive for Less Common Gene Abnormalities for more information about these genes and cancer risk.) Some of the largest panel tests even add in genes that are associated with inherited risk for other forms of cancer besides breast cancer. In addition, there are tests designed for people of different ethnic backgrounds, such as Ashkenazi Jewish or Hispanic.

Your genetic counselor and/or physician can help guide you through the many different options.

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