Horizon Advanced DNA Carrier Screening £450

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

Please follow the link to see the 274 genetic conditions

https://www.natera.com/horizon-carrier-screen/what-it-screens

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 at 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 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 a 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