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 parents 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.

Why carrier testing?

If you’re an expectant parent, or thinking about starting a family, you probably want to do everything you can to prepare. The Preparent® Carrier Test looks at your genes to see if you may carry a disease that you could pass on to your child. Knowing your genetic carrier status is one of the most important things you can do to prepare for parenthood.

 

Learn more about carrier testing.

How are these genetic diseases passed down?

What diseases are tested for?

Different genes are associated with different diseases, like cystic fibrosis and 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 helps you prepare for life

Couples who learn about their carrier status before conception can take steps to build a healthy family. There are a number of potential choices to consider. Some couples become pregnant naturally, with or without prenatal diagnosis. Some pursue in vitro fertilization (IVF), using preimplantation genetic testing to help select healthy embryos for implantation. Others use donor eggs or sperm from a person who is not a carrier. Some couples choose to adopt a child. Your healthcare provider or a genetic counselor can discuss these options in greater detail.

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

Visit your healthcare provider

Talk to your healthcare provider about whether this test is right for you.

Collect your sample

Your healthcare provider will coordinate collecting your sample and will send it to the Progenity laboratory.

Receive your results

Your test results will be completed in about 2 weeks; you’ll 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.

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.

Carrier testing can also be performed during pregnancy. Options include: Prenatal diagnosis, postnatal diagnosis

What diseases can I test for?

Preparent® Carrier Test
Description
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 Jewish

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

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

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

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.3-6 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.4

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.4,7

Our data on >10,000 patients supports this claim in that we often find carriers where we don’t expect them.8

Fast facts: Preparent Carrier Test

Preparent Carrier Test
Number of genes tested
Method
Positivity rate
Results in
Specimen(s) accepted
Preparent Trio
3
Genotyping
7%1
7 – 10
Whole blood, buccal swab, or mouthwash
Preparent Standard
29
Genotyping
13%1
7 – 10
Whole blood, buccal swab, or mouthwash
Preparent Global/Global+
200+
Genotyping
36%1
7 – 10
Whole blood, buccal swab, or mouthwash
Preparent Exon
150+
Exon sequencing
50%8
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 assistive 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 et al. What are you missing? Routine carrier testing identifies at-risk couples. Poster presented at ACOG 2018. Austin, Texas.
  3. Carrier screening for genetic conditions. Committee Opinion No. 691. American College of Obstetricians and Gynecologists. Obstet Gynecol 2017;129:e41–55.
  4. Carrier screening in the age of genomic medicine. Committee Opinion No. 690. American College of Obstetricians and Gynecologists. Obste Gynecol 2017:129:e35–40.
  5. Carrier screening for spinal muscular atrophy. ACMG Practice Guidelines. American College of Medical Genetics and Genomics. Genet Med. 2008 10:11:840–2.
  6. 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.
  7. Edwards et al. Expanded carrier screening in reproductive medicine - points to consider. Obstet Gynecol. 2015;125(3):653-62.
  8. Progenity, Inc. Data on file.

Support