Test Options

With more and more labs offering genetic testing for breast and ovarian cancer, it’s important to learn about each lab and the different tests that they offer. Knowing this information, your discussions about genetic testing with your healthcare provider or genetic counselor can be more informative.

Types of Genetic Tests

  • Multi-gene panel tests

    Panel tests look for mutations across several genes at the same time, giving you a good snapshot of your broader risk for various cancers and health conditions. Your healthcare provider can work with the lab that is performing your test to determine if a multi-gene panel makes sense for you. It is important to know that the multi-gene panel test may identify cancer risks that weren’t previously on your radar. Testing more genes does come with a higher chance of uncertain results, which could lead to unexpected risks (more about these VUS results below).

  • Single-gene tests

    Historically, genetic testing has focused on examining one gene at a time. This practice was grounded in the idea that your family or personal health history meant a higher risk of a mutation in a specific gene, like BRCA1 or BRCA2. If your first single-gene test didn’t find a mutation, your healthcare provider or genetic counselor may order follow-up tests for a different gene (or genes). For women whose health history and personal risk factors for breast and ovarian cancer indicate a need to test multiple genes, a multi-gene panel may be the right and most cost-effective choice.

  • Single-site tests

    If you have a family history of a mutation in one gene, a single-site test may be the best option for you. This type of test looks for the specific mutation that’s already been identified. Because it’s only looking for one mutation, this test is significantly cheaper to perform.

    Important note: If you have significant family health history of cancer on both sides of your family and/or your single site test comes back negative, you may still be at risk for a different genetic mutation. Talk to your healthcare provider or genetic counselor about additional single-gene or panel testing.

    If you are of Ashkenazi Jewish ancestry, a single-site test for the three common BRCA1/2 mutations may be especially helpful.

Panel tests look for mutations across several genes at the same time, giving you a good snapshot of your broader risk for various cancers and health conditions. Your healthcare provider can work with the lab that is performing your test to determine if a multi-gene panel makes sense for you. It is important to know that the multi-gene panel test may identify cancer risks that weren’t previously on your radar. Testing more genes does come with a higher chance of uncertain results, which could lead to unexpected risks (more about these VUS results below).

Historically, genetic testing has focused on examining one gene at a time. This practice was grounded in the idea that your family or personal health history meant a higher risk of a mutation in a specific gene, like BRCA1 or BRCA2. If your first single-gene test didn’t find a mutation, your healthcare provider or genetic counselor may order follow-up tests for a different gene (or genes). For women whose health history and personal risk factors for breast and ovarian cancer indicate a need to test multiple genes, a multi-gene panel may be the right and most cost-effective choice.

If you have a family history of a mutation in one gene, a single-site test may be the best option for you. This type of test looks for the specific mutation that’s already been identified. Because it’s only looking for one mutation, this test is significantly cheaper to perform.

Important note: If you have significant family health history of cancer on both sides of your family and/or your single site test comes back negative, you may still be at risk for a different genetic mutation. Talk to your healthcare provider or genetic counselor about additional single-gene or panel testing.

If you are of Ashkenazi Jewish ancestry, a single-site test for the three common BRCA1/2 mutations may be especially helpful.

Some tests look for a single gene mutation, while others look for several genes during the same test. Your unique situation and risk factors for breast and ovarian cancer will determine exactly which test makes the most sense for you.

Click on the test types here to see details about each.

Getting the Right Test

Work closely with your healthcare provider or a genetic counselor to understand which test is best, given your situation. You should also call your health insurer, as some companies require you to meet certain risk criteria before giving you the go-ahead for testing. If you’re uncomfortable with the type of test being suggested to you, keep asking questions and expressing your concerns until you feel satisfied. You owe it to yourself to be your own best advocate.

DNA sample: blood or saliva?

Most labs can perform genetic tests using DNA from either your blood or your saliva. Labs typically prefer blood tests, since they offer a better success rate. A blood test means visiting your healthcare provider’s office for a quick blood draw, a trip that may come with additional lab costs. Testing with saliva simply requires you to spit into a tube and has the built-in advantage of no needles – which also means no office visit. But, using saliva can potentially result in failed tests due to lower DNA quality.

About Genetic Testing Labs

Genetic testing labs are medical businesses, offering their own proprietary testing products and services. The basic gene sequencing technology may be the same across the board, but each lab offers different testing products that come with varying price tags and different methods of delivering your results.

Each genetic testing lab listed below has been reviewed and verified as reputable by an expert panel of genetic counselors and physicians. These labs are all CLIA- and CAP-certified and have genetic counselors on staff. This list is not exhaustive and your healthcare provider or genetic counselor can help determine the best lab and test for you.

Ambry
Pathway Genomics
Counsyl
GeneDX
Invitae
Myriad
Pathway Genomics
Quest
  • Ambry
    About Ambry Genetics

    Ambry has tested approximately half a million patient samples since beginning genetic testing. Ambry is dedicated to the belief that human health should not be patented or owned, and genomic data should be freely shared with the goal of curing all disease.

    • Year Established: 1999
    • Genetic Counselors available/on-staff
    • Financial assistance available
    • Insurance accepted
    VUS Follow Up
    • Variants reviewed every 6 months
    • Healthcare providers and patients are contacted automatically when a variant is reclassified
    Family Studies Program (VUS)
    • Offers free testing of appropriate family members when a VUS is identified
    Data Sharing
    • Shares anonymized patient records with the global medical research community
    • Shares via AmbryShare database which offers free access to the scientific community and free updates to the patient community

    Learn more at ambrygen.com.

  • Color Genomics
    About Color Genomics

    Color provides a physician-ordered, genetic testing at a lower than average cost, with the goal to expand physician-supported access to genetic testing for hereditary cancer risk to every person, everywhere.

    • Year Established: 2013
    • Genetic Counseling included in cost of test
    • Financial assistance available through the Every Woman Program
    • Insurance not accepted
    • Patient can initiate testing process
    VUS Follow Up
    • Variants reviewed every 6 months
    • Healthcare providers and patients are contacted automatically when a variant is reclassified
    Family Studies Program (VUS)
    • Offers free testing of appropriate family members when an eligible VUS is identified
    Data Sharing
    • Shares anonymized patient records with the global medical research community
    • Shares via ClinVar, a free, publicly accessible database managed by the National Center for Biotechnology Information (NCBI) at the National Institutes of Health (NIH)

    Learn more at getcolor.com.

  • Counsyl
    About Counsyl

    Focusing on accessibility, Counsyl is dedicated to putting patients first, putting clinicians in control, and putting costs in place. With a belief that every patient should understand the meaning of their results, on-demand or scheduled counseling is available for all patients.

    • Year Established: 2007
    • Genetic Counselors available/on-staff
    • Financial assistance available
    • Insurance is accepted
    • Patient can initiate testing process
    VUS Follow Up
    • Variants reviewed periodically
    • Healthcare providers are contacted automatically when a variant is reclassified
    Family Studies Program (VUS)
    • Offers testing of appropriate family members when an eligible VUS is identified
    Data Sharing
    • Shares anonymized patient records with the global medical research community
    • Shares via ClinVar, a free, publicly accessible database managed by the National Center for Biotechnology Information (NCBI) at the National Institutes of Health (NIH)

    Learn more at counsyl.com.

  • GeneDX
    About GeneDX

    GeneDx specializes in genetic testing for rare hereditary disorders.

    • Year Established: 2000
    • Genetic Counselors available/on-staff
    • Financial assistance available
    • Insurance accepted
    VUS Follow Up
    • Variants reviewed every 6 months or by request
    • Healthcare providers and patients are contacted automatically when a variant is reclassified
    Family Studies Program (VUS)
    • Offers free testing of appropriate family members when a VUS is identified
    Data Sharing
    • Shares anonymized patient records with the global medical research community
    • Shares via ClinVar, a free, publicly accessible database managed by the National Center for Biotechnology Information (NCBI) at the National Institutes of Health (NIH)

    Learn more at genedx.com.

  • Invitae
    About Invitae

    Invitae is a genetic information company whose mission is to bring genetic information into mainstream medical practice to improve the quality of healthcare for billions of people.

    • Year Established: 2010
    • Genetic Counselors available/on-staff
    • Financial assistance available
    • Insurance accepted
    VUS Follow Up
    • Variants reviewed every finding of the same variant
    • Healthcare providers and patients are contacted automatically when a variant is reclassified
    Family Studies Program (VUS)
    • Offers variant testing to eligible family members for $200 per gene for each family member tested
    Data Sharing
    • Shares anonymized patient records with the global medical research community
    • Shares via ClinVar, a free, publicly accessible database managed by the National Center for Biotechnology Information (NCBI) at the National Institutes of Health (NIH)

    Learn more at invitae.com.

  • Myriad
    About Myriad Genetics

    One of the older genetic testing labs, Myriad is focused on the discovery, development and marketing of transformative molecular diagnostic tests that address pressing clinical needs across multiple medical specialties. More than 1.5 million patients have undergone Myriad’s hereditary cancer genetic testing.

    • Year Established: 1992
    • Genetic Counselors available/on-staff
    • Financial assistance available
    • Insurance accepted
    VUS Follow Up
    • Variants reviewed weekly.
    • Providers are contacted automatically when a variant is classified or reclassified
    Family Studies Program (VUS)
    • Offers free testing to appropriate family members for VUSs
    Data Sharing
    • Does not contribute to public databases, however, provides data to scientific collaborators

    Learn more at myriad.com.

  • Pathway Genomics
    About Pathway Genomics

    With a mission of innovation in healthcare, Pathway uses technology to deliver personalized healthcare information and merge artificial intelligence and deep learning with precision medicine.

    • Year Established: 2008
    • Genetic Counselors available/on-staff
    • Financial assistance available
    • Insurance accepted
    VUS Follow Up
    • Variants reviewed every 6 months and with every finding of the same variant
    • Healthcare providers and patients are contacted automatically when a variant is reclassified
    Family Studies Program (VUS)
    • Offers free testing of appropriate family members when a VUS is identified
    Data Sharing
    • Shares anonymized patient records with the global medical research community
    • Shares via Free the Data, a movement dedicated to open access to genetic data and collaboration through information sharing
    • Shares via ClinVar, a free, publicly accessible database managed by the National Center for Biotechnology Information (NCBI) at the National Institutes of Health (NIH)

    Learn more at pathway.com.

  • Quest
    About Quest Diagnostics

    Quest Diagnostics has a mission to empower people to take action to improve health outcomes. A full-service lab facility founded in the 1967, that mission has included genetic testing since the 1970s.

    • Year Established: 1967
    • Genetic Counselors available/on-staff
    • Financial assistance available
    • Insurance accepted
    VUS Follow Up
    • Variants are analyzed on an ongoing basis
    • Healthcare providers and patients are contacted automatically when a variant is reclassified
    • Updates are also available by request
    Family Studies Program (VUS)
    • Available by request
    Data Sharing
    • Shares anonymized patient records with the global medical research community
    • Shares via BRCA Share™, a datashare initiative co-founded by Quest to provide scientists and laboratory organizations around the world with open access to BRCA1 and BRCA2 genetic data

    Learn more at questdiagnostics.com.

About Ambry Genetics

Ambry has tested approximately half a million patient samples since beginning genetic testing. Ambry is dedicated to the belief that human health should not be patented or owned, and genomic data should be freely shared with the goal of curing all disease.

  • Year Established: 1999
  • Genetic Counselors available/on-staff
  • Financial assistance available
  • Insurance accepted
VUS Follow Up
  • Variants reviewed every 6 months
  • Healthcare providers and patients are contacted automatically when a variant is reclassified
Family Studies Program (VUS)
  • Offers free testing of appropriate family members when a VUS is identified
Data Sharing
  • Shares anonymized patient records with the global medical research community
  • Shares via AmbryShare database which offers free access to the scientific community and free updates to the patient community

Learn more at ambrygen.com.

About Color Genomics

Color provides a physician-ordered, genetic testing at a lower than average cost, with the goal to expand physician-supported access to genetic testing for hereditary cancer risk to every person, everywhere.

  • Year Established: 2013
  • Genetic Counseling included in cost of test
  • Financial assistance available through the Every Woman Program
  • Insurance not accepted
  • Patient can initiate testing process
VUS Follow Up
  • Variants reviewed every 6 months
  • Healthcare providers and patients are contacted automatically when a variant is reclassified
Family Studies Program (VUS)
  • Offers free testing of appropriate family members when an eligible VUS is identified
Data Sharing
  • Shares anonymized patient records with the global medical research community
  • Shares via ClinVar, a free, publicly accessible database managed by the National Center for Biotechnology Information (NCBI) at the National Institutes of Health (NIH)

Learn more at getcolor.com.

About Counsyl

Focusing on accessibility, Counsyl is dedicated to putting patients first, putting clinicians in control, and putting costs in place. With a belief that every patient should understand the meaning of their results, on-demand or scheduled counseling is available for all patients.

  • Year Established: 2007
  • Genetic Counselors available/on-staff
  • Financial assistance available
  • Insurance is accepted
  • Patient can initiate testing process
VUS Follow Up
  • Variants reviewed periodically
  • Healthcare providers are contacted automatically when a variant is reclassified
Family Studies Program (VUS)
  • Offers testing of appropriate family members when an eligible VUS is identified
Data Sharing
  • Shares anonymized patient records with the global medical research community
  • Shares via ClinVar, a free, publicly accessible database managed by the National Center for Biotechnology Information (NCBI) at the National Institutes of Health (NIH)

Learn more at counsyl.com.

About GeneDX

GeneDx specializes in genetic testing for rare hereditary disorders.

  • Year Established: 2000
  • Genetic Counselors available/on-staff
  • Financial assistance available
  • Insurance accepted
VUS Follow Up
  • Variants reviewed every 6 months or by request
  • Healthcare providers and patients are contacted automatically when a variant is reclassified
Family Studies Program (VUS)
  • Offers free testing of appropriate family members when a VUS is identified
Data Sharing
  • Shares anonymized patient records with the global medical research community
  • Shares via ClinVar, a free, publicly accessible database managed by the National Center for Biotechnology Information (NCBI) at the National Institutes of Health (NIH)

Learn more at genedx.com.

About Invitae

Invitae is a genetic information company whose mission is to bring genetic information into mainstream medical practice to improve the quality of healthcare for billions of people.

  • Year Established: 2010
  • Genetic Counselors available/on-staff
  • Financial assistance available
  • Insurance accepted
VUS Follow Up
  • Variants reviewed every finding of the same variant
  • Healthcare providers and patients are contacted automatically when a variant is reclassified
Family Studies Program (VUS)
  • Offers variant testing to eligible family members for $200 per gene for each family member tested
Data Sharing
  • Shares anonymized patient records with the global medical research community
  • Shares via ClinVar, a free, publicly accessible database managed by the National Center for Biotechnology Information (NCBI) at the National Institutes of Health (NIH)

Learn more at invitae.com.

About Myriad Genetics

One of the older genetic testing labs, Myriad is focused on the discovery, development and marketing of transformative molecular diagnostic tests that address pressing clinical needs across multiple medical specialties. More than 1.5 million patients have undergone Myriad’s hereditary cancer genetic testing.

  • Year Established: 1992
  • Genetic Counselors available/on-staff
  • Financial assistance available
  • Insurance accepted
VUS Follow Up
  • Variants reviewed weekly.
  • Providers are contacted automatically when a variant is classified or reclassified
Family Studies Program (VUS)
  • Offers free testing to appropriate family members for VUSs
Data Sharing
  • Does not contribute to public databases, however, provides data to scientific collaborators

Learn more at myriad.com.

About Pathway Genomics

With a mission of innovation in healthcare, Pathway uses technology to deliver personalized healthcare information and merge artificial intelligence and deep learning with precision medicine.

  • Year Established: 2008
  • Genetic Counselors available/on-staff
  • Financial assistance available
  • Insurance accepted
VUS Follow Up
  • Variants reviewed every 6 months and with every finding of the same variant
  • Healthcare providers and patients are contacted automatically when a variant is reclassified
Family Studies Program (VUS)
  • Offers free testing of appropriate family members when a VUS is identified
Data Sharing
  • Shares anonymized patient records with the global medical research community
  • Shares via Free the Data, a movement dedicated to open access to genetic data and collaboration through information sharing
  • Shares via ClinVar, a free, publicly accessible database managed by the National Center for Biotechnology Information (NCBI) at the National Institutes of Health (NIH)

Learn more at pathway.com.

About Quest Diagnostics

Quest Diagnostics has a mission to empower people to take action to improve health outcomes. A full-service lab facility founded in the 1967, that mission has included genetic testing since the 1970s.

  • Year Established: 1967
  • Genetic Counselors available/on-staff
  • Financial assistance available
  • Insurance accepted
VUS Follow Up
  • Variants are analyzed on an ongoing basis
  • Healthcare providers and patients are contacted automatically when a variant is reclassified
  • Updates are also available by request
Family Studies Program (VUS)
  • Available by request
Data Sharing
  • Shares anonymized patient records with the global medical research community
  • Shares via BRCA Share™, a datashare initiative co-founded by Quest to provide scientists and laboratory organizations around the world with open access to BRCA1 and BRCA2 genetic data

Learn more at questdiagnostics.com.


SEE A COMPARISON CHART

VUS rate: what it means

Variant of Unknown Significance or VUS is something that you might see in your results. This classification means that a variant in the gene has been identified but the effect of the variant is unclear. Because VUS results require additional data to be classified successfully, many labs offer follow-up testing to select family members of patients previously tested, at no additional charge.

 

Data sharing

Many genetic testing labs share data with each other and genetic databases to improve testing, variant classification, and to get better results. Sharing data about VUS, for example, will provide scientists with more data on certain mutations that are currently hard to identify, which will lead to better information.

Don’t worry though – labs need your consent before sharing your data. When you agree, just know that they’re sharing anonymous data, not specific results that could be directly linked to you.

 

Ensuring lab quality

Labs certified by the CLIA (Clinical Laboratory Improvement Amendments) meet federal standards for testing including reliability, accuracy, and quality of test results. Any lab that shares results with patients must be CLIA-certified.

College of American Pathologist-certified labs have demonstrated that they meet the highest standards of quality, accuracy, and consistency. The CAP Laboratory Accreditation Process is specifically designed to help clinical labs exceed regulatory compliance requirements. The CAP inspection process investigates multiple components of the laboratory across key metrics. In addition, CAP certification can be used to meet many state and international certification requirements.