Horizon advanced carrier screening

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Horizon advanced carrier screening

What is Horizon carrier screening?

The Horizon test will analyze the genes to identify whether you are a carrier, for up to 274 autosomal recessive and X-linked syndromes.

Knowing if you are a carrier for a particular genetic disease can help you better with your family planning or medical care, or both. Most people are carriers of at least one genetic disease, even if nobody in the family has that disease.

Natera offers a simple test that helps identify carriers for more than 200 genetic diseases. This test offers several screening options, so your doctor can choose the entire panel or part of the panel, depending on your history or other factors.

Many of the diseases that the Horizon test can identify may be serious or may not occur in childhood, and others may be diagnosed only at an older age.

If you are planning to become pregnant or if you are already pregnant, you can choose to have a test for identifying carriers of genetic diseases. You will get a negative or positive response for each tested genetic disease. A negative result means that no mutation has been identified for the tested genetic disease which significantly reduces the possibility of being a carrier for that genetic disease.

Horizon provides information to families about the risk of developing a genetic disease and helps them make decisions about a future pregnancy.

Why screen for inherited conditions?

It is common for people to be carriers of at least one genetic condition. Carriers are usually healthy; however, they have a risk of passing on a genetic condition to their children. Horizon can be ordered before or during pregnancy.

Why choose Horizon?

Horizon supports you by offering:

• One of the largest panels available – 274 unique conditions

• Complimentary pre – and post-test genetic information sessions with board-certified genetic counselors

• Next-generation sequencing – the latest technology – to provide better detection rates

• One of the first labs to screen for Duchenne muscular dystrophy

• Five screening panels customized for specific populations, and à la carte ordering options

Conditions tested

We screen for 274 autosomal-recessive and X-linked genetic conditions, including:

Cystic Fibrosis – Horizon offers truly comprehensive screening of the cystic fibrosis gene via Next Generation Sequencing

Fragile X – Horizon automatically detects AGG interruptions for select premutation carriers, further refining risk for an affected child

Duchenne Muscular Dystrophy – the most common form of muscular dystrophy affecting children

Hemoglobinopathies – including alpha thalassemia, beta thalassemia, and sickle-cell disease

Spinal Muscular Atrophy (SMA) – including enhanced SMA (2+0) screening which refines the chance to be a silent carrier.

The Horizon process

Requisition form

Blood sample collection

Shipping the sample to the lab to be analyzed

Results sent to the doctor in about 2 weeks from receiving the sample in the lab

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