Preparent® Carrier Test

Preparent<sup>®</sup> Carrier Test

Test for genetic diseases that parents can carry and pass on to their children.

Being a carrier is common.

Up to 1 in 3 people carry a genetic disease.1

Most carriers do not have a family history.

Having a child with a genetic disease is often a surprise.

The only way to know is to test.

Parents who know can take steps to prepare.

Having a baby means sharing everything.

Learn what you could pass down with genetic carrier testing.
If you are an expectant parent, or thinking about starting a family, you probably want to do everything you can to prepare. The Preparent® Carrier Test looks inside your genes to see if you carry a disease that you could pass onto your child. Knowing your carrier status is an important step for parenthood.


Learn more about carrier testing.

If you know, you can make a plan.

Knowing your carrier status can help you prepare for life in these important ways:

    Health answers
    Follow-up testing can give you clear answers about your baby’s health.

    Early treatment benefits
    Make a plan for critical healthcare after your baby is born.

    Education and resources
    Find out about healthcare options, advocacy groups, and other resources that can support your family from the start.

    Time to prepare
    Working through family matters like finances and childcare is easier when you aren’t yet caring for a newborn.

    How are genetic diseases inherited?

    What does the test look for?

    Certain genes are associated with certain diseases, like cystic fibrosis or sickle cell anemia. The genetic diseases tested for with the Preparent Carrier Test were chosen because they have harmful effects that start at a young age. Effects can include health and learning problems that do not have a cure. Your healthcare provider will choose which genes to test, depending on a number of factors.

    Carrier testing gives you time to prepare for life.

    Parents who learn about their carrier status before conception can take steps to build a healthy family. There are a number of options to consider:

    Become pregnant naturally, with or without prenatal diagnosis.

    Pursue in vitro fertilization (IVF), using preimplantation genetic testing to help select healthy embryos for implantation.

    Use donor eggs or sperm from a person who is not a carrier.

    Sometimes, parents will learn during a pregnancy that they are carriers and at risk of having a child with a genetic disease. When this happens, prenatal diagnostic tests can tell parents if the pregnancy is affected with the disease.

    Knowing about the health of the baby can allow a provider to optimize their plan of care for the pregnancy and may give the family critical time to prepare⁠—physically, financially, and emotionally⁠—for the birth of a child with extra needs.

    Getting tested is simple and safe.

    Visit your healthcare provider

    Ask your doctor if this test is right for you.

    Collect your sample

    Your healthcare provider will take a blood sample and send it to the Progenity laboratory.

    Receive your results

    Your test results will be ready in about 2 weeks. You will be notified when they are ready.

    Review your next steps

    Get complimentary access to Progenity Genetic Counselors to help you and your healthcare provider plan your next steps.

    What do my results mean?

    The Preparent Carrier Test checks your genes to find out if you are a carrier for certain genetic diseases, like cystic fibrosis, that can cause serious health problems in infancy or childhood.

    Does a positive result mean my baby will have a genetic disease?
    No, it doesn't.
    A positive result means that you are a carrier for a genetic disease. Most of the time, testing your partner will be the next step in better understanding your risk. If your partner is also a carrier for the same disease, there is a 1 in 4 chance your baby will be affected.

    Is negative good?
    Yes, it's a good sign.
    A negative (normal) result means that you are not a carrier for any of the gene changes tested. Usually, no follow-up testing is needed. Negative results do not guarantee a healthy pregnancy or baby. These tests can only detect risk for the diseases tested. They don't screen for all genetic diseases, birth defects, or health conditions that could be present in a pregnancy.

    Frequently asked questions

    Most genetic diseases are autosomal recessive, which means that both parents must be a carrier for their child to be at risk. If you are a carrier of an autosomal recessive disease, it is important to find out if your partner is also a carrier of the same disease. There are some diseases where only mom needs to be a carrier for her child to be at risk. These are called X-linked diseases.

    Carrier testing determines with a high degree of accuracy whether you carry a gene change that could cause a disease. A negative result indicates you are not a carrier of the gene changes you were tested for. However, no test is perfect. There is still a small chance that you could be a carrier even if your result is negative.

    A routine lab test analyzes your DNA, and can determine whether you are a carrier.

    All testing is optional. The decision to accept or decline carrier testing is completely up to you.

    Results take about two weeks from the date your blood sample is drawn.

    1. Terhaar C, et al. Clinical experience with multigene carrier panels in the reproductive setting. Prenat Diagn. 2018 Jun; [Epub ahead of print].

    Rooted in the guidelines you follow.

    ACOG and ACMG recommend carrier testing for your patients.
    Read more.

    Options for all patients and practices.

    We appreciate one test doesn’t always fit all.
    Read more.

    Clear, actionable results.

    Reports designed with you in mind.
    Read more.

    Why recommend carrier testing?

    • Identify patients at risk to have children with genetic disease
    • Enable patients to understand future medical management
    • Help the family identify resources and prepare

    Carriers are common

    Up to 1 in 3 patients are positive when tested for carrier status of 200 diseases.1
    Read our research

    And, approximately 1 in 16 couples are both carriers for the same autosomal recessive disease.2
    Discover more data

    However, most carriers do not know they are at risk of having a child with a genetic disease.

    80% of couples who deliver babies with autosomal recessive diseases have no family history of disease.3

    Advised by professional societies

    “Ethnic-specific, panethnic, and expanded carrier screening are acceptable strategies for prepregnancy and prenatal carrier screening. Each... practice should establish a standard approach that is consistently offered to and discussed with each patient, ideally before pregnancy.”
    ACOG Committee Opinion No. 690, March 2017

    Preconception is the ideal time to test

    “Carrier screening and counseling ideally should be performed before pregnancy because this enables couples to learn about their reproductive risk and consider the most complete range of reproductive options.”
    ACOG Committee Opinion No. 691, March 2017

    Options include: Natural conception, gamete donation, preimplantation genetic testing, adoption

    Learn more about offering preconception carrier testing.

    Learn More

    What diseases can I test for?

    Preparent® Carrier Test
    Diseases tested
    Preparent Trio
    Genotyping analysis for 3 diseases
    Preparent Standard
    Genotyping analysis for 29 diseases
    Preparent Global/Global+
    Genotyping analysis for 200+ diseases
    Preparent Exon
    Exon sequencing analysis for 150+ diseases

    3 in 4 Ashkenazi Jewish disease carriers do not self-identify as Ashkenazi Jewish4

    1 in 3 cystic fibrosis carriers do not self-identify as Caucasian or Ashkenazi Jewish4

    1 in 3 sickle cell anemia carriers do not self-identify as African American4

    1 in 2 alpha-thalassemia carriers do not self-identify as African American or Asian4

    Find the test to meet your needs

    The Preparent Trio Test tests for three of the most common genetic diseases—cystic fibrosis, spinal muscular atrophy, and fragile X syndrome. These diseases can cause serious health problems in infancy and childhood, leading to decreased lifespan or impaired mental capability.

    The Preparent Standard Test has been carefully designed to meet all current guidelines from ACOG and ACMG.5-8 This enables a simple carrier testing protocol that is compliant with professional society guidelines, without relying on the accuracy of patient-reported risk factors such as family history and ethnic background.6

    Expanded test options, such as the Preparent Global/Global+ Test and Preparent Exon Test, maximize your ability to detect carriers, regardless of their ethnicity. This testing approach is considered reasonable by professional societies because self-assigning a single ethnicity is difficult, and this makes particular diseases less likely to be confined to a specific ethnicity.6,9

    Our data on >10,000 patients supports this claim in that we often find carriers where we don’t expect them.10

    Fast facts: Preparent Carrier Test

    Preparent Carrier Test
    Number of genes tested
    Positivity rate
    Results in
    Specimen(s) accepted
    Preparent Trio
    7 – 10
    Whole blood, buccal swab, or mouthwash
    Preparent Standard
    7 – 10
    Whole blood, buccal swab, or mouthwash
    Preparent Global/Global+
    7 – 10
    Whole blood, buccal swab, or mouthwash
    Preparent Exon
    Exon sequencing
    14 – 17
    Whole blood

    Which test is right for my practice?

    One size doesn’t fit all. Choose what fits your practice and your patients.

    Things to consider when choosing a test:

    • Positivity rates
    • Pre- and post-test counseling resources
    • Help the family identify resources and prepare
    • Referral procedure for assisted reproductive technologies and prenatal testing for at-risk couples

    Regardless of your preferred test option, know that implementing a carrier testing protocol doesn’t have to mean more work for your practice. Progenity can help make things simple from sample collection to results delivery.

    Why Progenity? We make it easy.

    From start to finish, our team is committed to making your life easier. We’ll work with you to institute a practical program of prenatal screening, tailored to the needs of your practice and your patients. Whether you need brochures or an in-depth review of a case, you’ll get the service and support you need.

    Expert clinical support for providers & patients

    Our team is here for you. A world-class team of genetic counselors and experienced laboratory directors is on call to support clinicians and discuss results with patients.

    Proactive notification of positive results

    Never miss a positive result. Our staff reviews each positive result and personally contacts your office. Our team of genetic counselors is always available to answer any questions.

    Personalized client service at every step

    Where you’re a name, not a number. Your responsive Progenity account manager is available locally, and the Progenity Client Services team is just a phone call away.

    1. Terhaar C, et al. Clinical experience with multigene carrier panels in the reproductive setting. Prenat Diagn. 2018 Jun; [Epub ahead of print].
    2. Swope B, et al. What are you missing? Routine carrier testing identifies at-risk couples. Poster presented at ACOG 2018. Austin, Texas.
    3. Archibald AD, et al. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genet Med. 2018 Apr;20(5):513-523.
    4. Hill-Harfe K, et al. Committee Opinion in action: Pan-ethnic carrier testing results. Platform presentation at ACMG 2018. Charlotte, NC.
    5. Carrier screening for genetic conditions. Committee Opinion No. 691. American College of Obstetricians and Gynecologists. Obstet Gynecol 2017;129:e41–55.
    6. Carrier screening in the age of genomic medicine. Committee Opinion No. 690. American College of Obstetricians and Gynecologists. Obste Gynecol 2017:129:e35–40.
    7. Carrier screening for spinal muscular atrophy. ACMG Practice Guidelines. American College of Medical Genetics and Genomics. Genet Med. 2008 10:11:840–2.
    8. Carrier screening in individuals of Ashkenazi Jewish descent. ACMG Practice Guidelines. American College of Medical Genetics and Genomics. Genet Med. 2008 Jan;10:54–6.
    9. Edwards JG, et al. Expanded carrier screening in reproductive medicine - points to consider. Obstet Gynecol. 2015;125(3):653-62.
    10. Progenity, Inc. Data on file.