Carrier Screening

Horizon™ carrier screening is a simple test that checks to see if you are a carrier of one or more autosomal recessive or X-linked genetic conditions. The majority of people are carriers of at least one genetic condition. Most carriers are healthy; however, they can have a risk to have a child with a genetic condition. Having carrier screening allows you to make more informed reproductive decisions by helping you understand you carrier status. You can have Horizon carrier screening before or during pregnancy.

Both the mother and the father have to be carriers of a specific autosomal recessive condition to be at risk of having a child with that condition. If a woman and her partner are both carriers of the same condition, they have a 1 in 4, or 25%, chance in each pregnancy of having a child affected with the condition

Typically, only females can be carriers of X-linked conditions. If a woman is a carrier of an X-linked condition, she has a 1 in 2, or 50%, chance in each pregnancy of passing her gene mutation on to the child. If the child is a girl, she has a 50% chance of being a carrier. If the child is a boy, he has a 50% chance of being affected with the condition.

Horizon can help you and your partner learn about the chance of having a child with a genetic condition. Many people do not know they are a carrier of an inherited genetic condition until they have an affected child.

A carrier of a genetic condition is someone who has a change (or mutation) in one gene copy of a pair of genes. A carrier is usually healthy because the other copy of the gene works normally. Carriers do, however, have a risk of having a child affected with a specific condition.

A small blood sample is required. Results are returned to your doctor in 3-4 weeks.

A negative result means that no mutations for the conditions screened for were found. While a negative result significantly lowers your chances of being a carrier, carrier screening cannot detect all disease-causing mutations.

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