Resura® Prenatal Test

progenity-resura

Test for monogenic diseases using noninvasive cell-free DNA technology.

What are monogenic diseases?

DNA plays an important role in your health. A monogenic disease is caused by a damaging change to a specific gene—a small unit of DNA. These changes are often passed down from parent to baby. The monogenic disease for which your baby can be tested depends on your personal and family history.

Your children may be at-risk for a monogenic disease if:

    You or your partner has a genetic disease
  • You have a previous child affected with a genetic disease
  • You and/or your partner are known carriers of a genetic disease

Not every family is at risk for monogenic disease. Talk to your healthcare provider if you think this test may be right for you.

Why prenatal testing for monogenic disease?

Parents who learn their baby is at risk for a monogenic disease are often left worrying and waiting to find out if their baby is affected. Some opt to have invasive testing—CVS or amniocentesis during the pregnancy—or to delay diagnosis until after birth. Regardless, sitting with the unknown can be difficult.

The Resura® Prenatal Test is a new test that lets you know with >99% accuracy whether your baby is likely affected, without the risks of invasive testing or waiting until after delivery. This knowledge relieves you of the unknown and empowers you with the information you need to prepare for the birth of your baby.

How does this test work?

The Resura Prenatal Test is tailored to you, meaning we customize the test to detect the specific disease for which your baby is at risk.

A 3-step testing process

Prenatal testing helps you prepare for life.

Knowing about the health of the baby during pregnancy allows you to make the most informed choices for your family.

This information can help guide the management of the pregnancy and could also give you critical time to prepare—physically, financially, and emotionally—for the birth of a child with extra needs.

FAQs

No test is perfect, but false positive and false negative results are rare (<1%). Prenatal testing can't check for everything that could impact the health of your baby. Other disorders, birth defects, or health conditions may be present, even if results are normal.

All testing is optional. The decision to accept or decline screening is a personal choice and should be one you discuss with your healthcare provider.

Yes—testing is safe for both mom and baby. Testing is performed on a blood sample. Your healthcare provider will make the necessary arrangements to collect your sample for testing.

Case evaluation (Step 1) and verification testing (Step 2) can be done before or during pregnancy. Prenatal testing (Step 3) must be completed during pregnancy (10+ weeks’ gestation).

The time it takes to receive results for each step of testing varies. Case evaluation (Step 1) takes about one week. Verification testing (Step 2) typically takes about two weeks. But some diseases that require added steps for customization may take up to four weeks for verification. Prenatal testing (Step 3) takes 1 – 2 weeks. Because the length of time for testing varies by the disease in your family, we will give your healthcare provider a better estimate of when results will be ready following case evaluation.

The fee for Resura testing covers the entire three-step testing process, including prenatal testing for the disease variant(s) of interest along with aneuploidy screening, for one pregnancy. Progenity is not able to accept healthcare insurance for the Resura Prenatal Test. Download our payment policy for cost details here.

Still have questions? Contact us.

Families with rare disease deserve options, too.

  • Custom-designed prenatal testing
  • Detects rare & common diseases
  • Works for all inheritance types*

Other cfDNA tests for monogenic disease are available, but the clinical application for families with known disease makes the Resura® Prenatal Test unique.

See how Resura compares to these other tests and how it offers a new option for families affected by rare disease.

Learn how Resura compares

*Variant type affects feasibility. Diseases caused by nucleotide repeats (for example, fragile X syndrome, myotonic muscular dystrophy, Huntington disease) and large copy number variants (for example, alpha-thalassemia, spinal muscular atrophy, Duchenne muscular dystrophy) are excluded.

A novel test using cell-free DNA

The Resura Prenatal Test is a new application of cfDNA technology that allows you to detect not only common chromosomal diseases, but also rare monogenic diseases caused by variants in a specific gene. Validation results demonstrate excellent clinical performance. See the data.

CLINICAL PERFORMANCE1*

Sensitivity
>99.9%
Specificity
>99.9%
PPV
≥99.7%
NPV
99.9%

*When parental variants are known. De novo variants are excluded from calculations.

Who the test is for

Families with a known risk for inherited genetic disease where:

    Parent or sibling is affected with a disease
  • Both parents are known carriers of a recessive disease
  • Mother is a known carrier of an X-linked disease

This test also includes non-invasive aneuploidy screening for common chromosomal diseases that all babies are at risk for, such as trisomy 21 (Down syndrome). Inclusion of these diseases in this test means you only need to order one cfDNA test to meet all your patient’s needs.

Progenity-Resura-Flowchart

A 3-step testing process

Fast facts: Resura Prenatal Test

Steps
Specimens Accepted
When
Case Evaluation
Paperwork only
Before or during pregnancy
Verification Testing
1 EDTA tube for each parent
Before or during pregnancy
Prenatal Testing
6 Streck tubes
10+ weeks' gestation

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.

REFERENCES

  1. Progenity, Inc. Validation data on file.

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