advanced carrier screening

HorizonTM genetic carrier screening helps couples determine the risk of passing on serious genetic conditions to their child. It can be performed either preconception (ideally) or during pregnancy.

What is carrier screening?


All of us are carriers of at least one genetic condition. Carriers are typically healthy. Most have no family history of the genetic condition they carry or understanding of how that condition could impact their child. Carrier screening is a type of test that allows you to determine your risk for passing an inherited genetic condition onto your child.

When performed before conceiving, genetic carrier screening provides you with actionable knowledge and the opportunity to pursue alternative reproductive options. Carrier screening during pregnancy (prenatal carrier screening) can also have life-altering benefits: It can help couples decide on diagnostic testing, and if necessary, help them prepare emotionally, medically, and financially for a baby affected by a genetic condition.

Test Panorama

Why choose HorizonTM?

Using the latest technologies, including next-generation sequencing, Horizon screens for up to 274 genetic conditions, including commonly screened conditions such as cystic fibrosis, spinal muscular atrophy, fragile X syndrome, and sickle cell anemia.

Advanced technology and unmatched support make Horizon unique among DNA screening tests. The test is easy to take. Results are presented clearly, directly, and can pave the way to critical action steps.

Is carrier screening right for you?

Most people do not know they are a carrier for an inherited genetic disease until they have a child with the condition. Everyone can be a carrier of a genetic condition regardless of ethnicity, family background, or family history.

Genetic carrier screening performed at a DNA testing center or genetics center can help you and your partner learn if you are likely to pass a genetic condition to your child, before or even during pregnancy. With HorizonTM genetic carrier screening, you screen for one or many genetic diseases in one simple test. Before undergoing carrier screening, it may be helpful to learn more about genetics and inheritance of diseases.

Carriers are common, and family history is not a predictor

gorgeous mother and daughter relaxing outdoors
Family history: not a predictor

88% of carriers of cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome have no known family history.1

young happy family. man and a pregnant woman happy nature. Happy beautiful pregnant woman with his husband sitting on the lawn outside. Family together in the summer park. Woman is pregnant
Carrier frequency

1 in 9 people are carriers when screened with the HorizonTM 14 standard pane.2

Combined incidence

1 in 634 babies are affected by one of the conditions in the HorizonTM 14 standard panel.2

Carrier screening is no longer a “nice-to-have”; it’s now best practice — regardless of ethnicity and screening strategy. ACOG recommends carrier screening for all patients either preconception or during pregnancy.3

Leading-edge technology meets support for your patients and practice

HorizonTM carrier screening leverages next-generation sequencing technology to give your patients comprehensive insights on their risk of passing on serious genetic conditions. HorizonTM uniquely combines actionable results with support resources tailored for your patients and practice.

High detection rates — advanced technology detects more carriers

Cystic fibrosis

Traditional genotyping tests can miss up to 44% of carriers detected by HorizonTM.2

Spinal muscular atrophy

Traditional screening misses ~60% of patients HorizonTM identifies as at risk.2


CBC (complete blood count) and electrophoresis testing alone could miss 90% of alpha- and 6% of beta-hemoglobinopathy carriers detected by HorizonTM.2


1Archibald, A., Smith, M., Burgess, T. et al. Genet Med 20, 513–523 (2018). https://doi.org/10.1038/gim.2017.134

2Westemeyer, M., Saucier, J., Wallace, J. et al. Genet Med (2020). https://doi.org/10.1038/s41436-020-0807-43.

3American College of Obstetricians and Gynecologists, Committee Opinion #690, March 2017.