Genetic Testing process | mySupport360

Genetic Testing process

There are four parts to the hereditary cancer testing process.

Click on each to learn more.

The first step is a consultation with your healthcare professional. He or she will help you understand about hereditary cancer and the genetic testing process, and will encourage you to ask questions. The following resources can help you prepare for this important meeting:

  • “Red Flags” checklist: A family history is one of the strongest indicators that you may have inherited a gene mutation that increases your cancer risk. Your doctor will help you identify these warnings, or red flags.
  • Words to know: You will probably hear many new terms during the risk screening process. Use this glossary of words to know to help you with some of the more complicated terms.
  • Pre-appointment printout: Use this list of sample questions to prepare for your first appointment to discuss testing with your healthcare provider. This printable list will help you get the information you need about hereditary cancer syndromes, testing, and insurance.

If you do not yet have a healthcare professional who can take you through the hereditary cancer risk screening process, you can find one by using our Find a Provider tool.

Red flags checklist

This checklist can help you identify your possible risk of Hereditary Breast and Ovarian Cancer (HBOC) syndrome and Lynch syndrome. You can print the results and bring them with you to your consultation with your healthcare professional.

Consider both your mother’s and father’s sides of the family when answering the following questions to help in assessing your hereditary cancer risk factors for breast and ovarian cancer.

Do you have a family or personal history of any of the following?

(Check only if your answer is yes):


  • *+ HBOC-associated cancers includes breast (including DCIS), ovarian, pancreatic, and aggressive prostate cancer

Lynch syndrome:

  • ±Lynch syndrome-associated cancers include colon/rectal, endometrial, ovarian, stomach/gastric, kidney/urinary tract, biliary tract, small bowel, pancreas, brain, and sebaceous adenoma cancers.^Close family members are parents, siblings, aunts, uncles, nieces, nephews, grandparents and grandchildren.

Learn more about your individual risks by taking our self-assessment quiz.

Assessment criteria are based on medical society guidelines. Go to to learn more about these individual guidelines.

Take the Myriad Hereditary Cancer Quiz

Myriad Genetics’ Hereditary Cancer Quiz helps you to assess whether you might be a good candidate for testing. This quiz can help you get the information you need to discuss your risk of cancer with your healthcare provider and ask for further evaluation. If you take the quiz and find red flags in your own history or your family history, you may benefit from hereditary cancer testing.

The quiz will help you determine if you are at risk for the following hereditary cancers:

  • Breast
  • Ovarian
  • Colon
  • Endometrial
  • Pancreatic

Start the Quiz

The information gained from testing gives you and your family members the best chance at reducing your risk of future cancers. If you and your doctor decide that you are a candidate for genetic testing, there are many options available from Myriad Genetic Laboratories.

BRACAnalysis®: a test for Hereditary Breast and Ovarian Cancer syndrome (HBOC)

  • Integrated BRACAnalysis
    This test is used if no one else in your family has been tested, or no one else has had a positive result for a gene mutation. It checks for mutations in the BRCA1 and BRCA2 genes associated with HBOC syndrome.
  • Single Site BRACAnalysis
    When a gene mutation has been previously identified in another family member, this screening test will look for that specific mutation only.
  • Multisite 3 BRACAnalysis
    This BRACAnalysis test is used for the three most common mutations found in people of Ashkenazi, or Eastern European, Jewish ancestry.
  • BRACAnalysis Large Rearrangement Test (BART)
    Most BRCA1 and BRCA2 gene mutations can be found with the standard BRACAnalysis test. However, there are some less common gene mutations that can only be found using a test called the BRACAnalysis Large Rearrangement Test (BART).

COLARIS®: a test for Hereditary Colon Cancer

    This test is used if no one else in your family has been tested or no one else has had a positive result for a gene mutation. It checks for gene mutations in the following genes: MLH1, MSH2, MSH6, PMS2,EPCAM, and MYH.
    This test aids assessment of the risk of developing hereditary colorectal polyps; it detects mutations in the APC and MYH genes, which cause adenomatous polyposis colon cancer syndromes.
  • Single Site COLARIS or Single Site COLARIS AP
    This test is used if there is a known gene mutation in your family so your healthcare professional can look for a specific mutation.
  • Gene-Specific COLARIS
    This test is appropriate for individuals with cancer who have had tumor analysis indicating they might have Lynch syndrome.

MELARIS®: a test for hereditary melanoma

This test detects inherited mutations in the p16 gene (also called CDKN2A or INK4A), which are associated with hereditary melanoma.

PANEXIA®: a test for hereditary pancreatic cancer

This test analyzes the PALB2 and BRCA2 genes, which are those most commonly mutated in families with hereditary pancreatic cancer.

Based on your family history and your personal needs, your doctor will decide which test is right for you. In addition to these risk-assessment tests, Myriad also offers other tests that can help cancer specialists optimize treatment plans for patients who have certain types of cancer.

Unique tests to aid cancer treatment planning

Additional testing is also available to help those who have already been diagnosed with cancer. A doctor might order one of these tests to learn more about tumor behavior or an individual patient’s possible response to therapy. The results of these tests help to make personalized treatment possible.

PROLARIS®: a test to assess prostate cancer aggressiveness

This test measures the expression levels of the genes involved in cell cycle progression. At the time of diagnosis, Prolaris can help to identify patients with less aggressive cancer who may be candidates for active surveillance. In addition, Prolaris can identify patients who appear clinically low-risk but have a more aggressive disease that requires more aggressive treatment. Visit to learn more about this unique test.

PREZEON®: a test of PTEN gene function

In cancer patients, loss of PTEN function is associated with more aggressive disease. Studies have identified PTEN gene expression as being associated with improved response to cancer drugs in several cancers including breast, colon, and prostate.

The results of your test will be sent to your healthcare provider within about two to three weeks. He or she will meet with you to explain what the test found. Your results may be more than simply “positive” or “negative.”



  • Integrated BRACAnalysis
  • BRACAnalysis Large Rearrangement Test
  • Single Site BRACAnalysis
  • Multisite 3 BRACAnalysis


  • Single Site COLARIS
  • Gene Specific COLARIS



If you’ve received a test that is not listed here, ask your healthcare provider for an explanation of the results. Your test results are always personal and confidential. Learn about how patient privacy is protected.

Who uses your information?

Only you and your healthcare provider will be able to see the results you receive from your test. The Health Insurance Portability and Accountability Act (HIPAA) of 1996 created federal privacy protections that apply to all health information created or maintained by healthcare providers, health plans, and healthcare clearinghouses.

In addition, HIPAA created federal security standards that apply to protected health information that is in an electronic format. State laws have also been enacted to protect patient privacy.

This means that any personal or family information you provide, and any information gained from the tests you take, cannot be shared without your permission. Learn more about patient privacy.

If your test shows that you do carry a gene mutation that increases your risk for cancer, this is powerful information that can help both you and your family. You and your healthcare team can use the results to support plans and informed decisions about your health.

Other family members may need to be tested in order to find out if they too share the same genetic trait that can increase their cancer risk. You can help your family understand that if they get tested, the information from their results will enable them to take steps to reduce their cancer risk dramatically.

Testing can also inform family members that they are not at increased risk when they test negative for a family mutation. Just knowing that there are no known hereditary factors or hereditary syndrome that can lead to an increased risk of cancer can be of great comfort.

Talk with family members about getting tested and about how knowing more can help reduce their concern, as well as their risk. Here are some tips for starting a family discussion:

  • Start by telling your loved ones about your own journey as you learned about your hereditary cancer risks
  • Sit down with the family and show them this website
  • Encourage them to get and stay healthy by exercising, eating a diet rich in antioxidants, and quitting smoking or other poor health habits
  • Hand out printable information cards to family members to encourage them to talk with their healthcare providers about the family history