pacgenomics-carrier-screening

Carrier Screening

Knowing is important.
Find out if you are a carrier
of genes associated with
certain genetic disorders.

What is carrier screening?

Carrier screening is a genetic test that can tell a patient if they are a carrier of a gene for a specific genetic disorder.

A carrier is a person who only carries one gene for a genetic disorder. For some disorders, it takes two genes for a person to have the disorder. Carriers usually show no symptoms to mild symptoms for a disorder. Because of this, a patient may not know they are a carrier for a gene for a particular disorder and they may pass this gene on to their children.

Is carrier screening right for me?

Carrier screening is recommended for all patients who are pregnant or who are considering becoming pregnant.

Collection of a sample of blood, saliva, or tissue from inside the cheek is used. This sample is then sent to our lab where the carrier screening test is performed.

Test results will either show as negative (you do not have the gene) or positive (you do have the gene). The partner who is deemed most likely to be a carrier is tested first. If test results for the first partner come back negative, no further testing is recommended. If the first partner tests positive for a gene then the other partner will then need to be screened as well. The likelihood of a child having a disorder if both parents are carriers is 25%. With these probabilities in mind, a physician may discuss alternative options for conceiving a child when both parents are carriers.

How it works?

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