Horizon test

HorizonTM: DNA carrier screening test for up to 274 autosomal recessive and X-linked genetic conditions

  • HorizonTM is a DNA screening test that provides information on patients´ chance of having a child with a genetic condition.
  • Knowing carrier status of genetic conditions allows patients to make more informed reproductive decisions.
  • Horizon´s technology provides comprehensive screening results for commonly screened conditions, like Cystic Fibrosis, Duchenne Muscular Dystrophy, Fragile X, Spinal Muscular Atrophy

 

Download Horizon patient brochure here

 

What is carrier screening?

Carrier screening is a simple blood test that determines if you are a carrier of one or more autosomal recessive or X-linked genetic conditions.

 

What does it mean to be a carrier?

A carrier of a genetic condition has a change (or “mutation”) in one gene copy of a pair of genes.

  • Most people are carriers of at least four to six genetic conditions
  • Most carriers are healthy because the other copy of the gene works normally
  • Carrier couples are at increased chance to have a child with a genetic condition
  • Knowing carrier status of genetic conditions allows patients to make more informed reproductive decisions

 

What Horizon screens for

Horizon screens for up to 274 genetic conditions. Please ask your doctor and discuss the choice for carrier screening. This may include screening for a few or all of the conditions available through Horizon. Horizon´s technology provides comprehensive screening results for commonly screened conditions, like Cystic Fibrosis, Duchenne Muscular Dystrophy, Fragile X, Spinal Muscular Atrophy

 

Download Horizon Condition list here

 

How are genetic conditions passed down from carrier parents to children?

Autosomal recessive inheritance

If a woman and her partner are both carriers of the same condition, they have a 1-in-4, or 25%, chance with each pregnancy of having a child affected with the condition.

 

X-linked inheritance

If a woman is a carrier of an X-linked condition, she has a 1-in-2, or 50%, chance with each pregnancy of passing the gene mutation to her child. If the child is a boy, and he inherits the mutation, he will be affected with the condition.

 

When should a patient have carrier screening?

Horizon can be performed any time before or during pregnancy. Some people may want to know their carrier status before pregnancy to inform reproductive decisions.

 

What do Horizon results tell me, and when?

Results are returned to the doctor in about 2-3 weeks.

A positive result means that a disease-causing or likely disease-causing mutation was detected. It is important to determine the partner’s carrier status, too, to understand the chances of passing a genetic condition to the child.

A negative result means that no mutations for the conditions screened were found. While a negative result indicates a significantly lower chance to be a carrier, carrier screening cannot detect all disease-causing mutations.

 

What are the reproductive options if a couple is carrier?

If partners are both carriers of the same autosomal recessive condition, or if one partner is a carrier of an X-linked condition, the couple may consider:

  • Natural conception, with an option of prenatal testing, such as amniocentesis or chorionic villi sampling, for the specific condition
  • In vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD)
  • Use of a sperm or egg donor who is not a carrier for the condition (if allowed in your country)
  • Adoption

 

 

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