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Guidelines for Testing
Review expert guidelines regarding who should consider genetic testing, how to find a genetics expert and how to move forward with testing.
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Hereditary Cancer and Genetic Testing > Genetic Testing Guidelines > Testing Guidelines > Endometrial > Guidelines for Testing

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Guidelines for Testing
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Benefits of Testing
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Gene Mutations

Guidelines for genetic testing in people diagnosed with endometrial cancer

About 5% of women diagnosed with endometrial cancer have an that caused their cancer. There are national guidelines that outline who should consider genetic counseling and testing for an  linked to cancer.

Guidelines for endometrial cancer tumor testing followed by genetic testing

Experts recommend tumor testing endometrial cancers at the time of diagnosis to look for biomarkers known as "" () or microsatellite instability-High (). These two related abnormalities are commonly found in the cancers of people with .

  • People with dMMR/MSI-High cancers are recommended to have genetic counseling and testing for . 
    • dMMR/MSI-High cancers can occur in people who do not have . Not all people with  cancers will test positive for a  mutation.
    • People with inherited mutations who develop colorectal cancer may have cancers that do not have these biomarkers. 
    • People with cancers that are not may still benefit from genetic counseling and testing. 
  • Cancers with these biomarkers tend to respond well to treatment with a certain type of treatment known as . 

 

Additional guidelines for genetic testing in people diagnosed with endometrial cancer

Genetic counseling and testing for an  is also recommended for people diagnosed with endometrial cancer who have any of the following:

  • a blood relative with a known in a cancer gene.
  • diagnosed before age 50.
  • diagnosed with another type of cancer seen in people with , including colorectal, ovarian, pancreatic, stomach or other Lynch syndrome-related cancer.
  • have a close relative with a Lynch syndrome-related cancer diagnosed under age 50.
  • have two or more relatives with a Lynch syndrome-related cancer diagnosed at any age.

 

Other people diagnosed with endometrial cancer who may benefit from genetic counseling and testing

People with endometrial cancer may benefit from additional genetic counseling and expanded genetic testing if they had genetic testing in the past, tested negative, and:

  • their situation matches any of the other guidelines above, and
    • they had a test that only looked for one or a few genes, or 
    • they had genetic testing before 2014. Genetic testing has improved, and laboratories can now find gene mutations that may have previously been missed.


Endometrial cancer survivors and those in treatment should speak with a genetics expert to see if testing is right for them. 

Genetic testing for relatives of people who have been diagnosed with endometrial cancer

Genetic counseling and testing is also recommended for anyone with a first-degree or second-degree relative who has been diagnosed with endometrial cancer before age 50. 

See our sections Testing Guidelines by Cancer Type and Genetic Testing for People Who Have Never Been Diagnosed with Cancer for additional guideline information. 

Last updated November 12, 2023

Find Experts
Find Experts

The following resources can help you locate a genetics expert near you or via telehealth.

Finding genetics experts

  • The National Society of Genetic Counselor website has a search tool for finding a genetic counselor by specialty and location or via telehealth. 
  • InformedDNA is a network of board-certified genetic counselors providing this service by telephone. They can also help you find a qualified expert in your area for face-to-face genetic counseling if that is your preference. 
  • Gene-Screen is a third party genetic counseling group that can help educate, support and order testing for patients and their families. 
  • JScreen is a national program based out of Emory University that provides low-cost at-home genetic counseling and testing with financial assistance available.
  • Grey Genetics provides access to genetic counselors who offer genetic counseling by telephone. 
  • The Genetic Support Foundation offers genetic counseling with board-certified genetic counselors. 

Related experts

Genetics clinics

Other ways to find experts

updated: 07/21/2023

Get Support
Get Support

The following organizations offer peer support services for people with or at high risk for endometrial cancer:

updated: 08/28/2022

Paying For Care
Paying For Care

Insurance coverage for genetic counseling and testing

Most health plans cover genetic counseling and testing for inherited gene mutations linked to cancer in people who meet the national guidelines. The cost of testing and your out-of-pocket charges may vary based on several factors.

People who are denied coverage for genetic testing can file an appeal (FORCE has sample appeal letters). Your healthcare provider can work with your insurance company and help you file an appeal if needed. Low cost testing may be available for $250 or less. Learn more about coverage for genetic counseling and testing here. 

If you need information about finding an insurance plan, watch our video: Choosing Wisely: How to Pick Insurance Plans.

testing under the Affordable Care Act

Under the Affordable Care Act (ACA), insurance companies must pay for both genetic counseling and  testing with no out-of-pocket costs for women who meet certain criteria. The ACA regulations are limited to testing for and only and do not cover genetic counseling or testing in all situations. You can learn more about testing under the ACA here. 

Medicare and Medicaid coverage of genetic testing

Genetic counseling and testing is typically covered by Medicare for people already diagnosed with cancer who are in treatment or for whom test results may affect their care. Most state Medicaid programs cover genetic testing for and mutations for people who meet requirements, which vary by state. You can read more about Medicare and Medicaid coverage of genetic testing here.

Financial assistance or low cost genetic testing

JScreen is a national program based out of Emory University that provides low-cost at-home genetic counseling and testing with financial assistance available. Many laboratories offer low-cost genetic testing or financial assistance programs. Programs vary, so if you are not eligible for assistance through one lab, consider contacting other labs to see if you qualify .   

updated: 03/16/2023