Comprehensive Genetic Carrier Screening Services

Genetic carrier screening is a test that identifies individuals carrying gene mutations associated with genetic disorders.

Genetic Carrier Screening FAQ

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What is genetic carrier screening?

Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene (s) associated with a diagnosis. Information about genetic carrier screening should be provided to every pregnant woman.

What is carrier screening?

Carrier screening is a type of genetic test that can tell you whether you carry a gene for certain genetic disorders. When it is done before or during pregnancy, it allows you to find out your chances of having a child with a genetic disorder. What is a recessive disorder? Most carrier screening is for recessive disorders.

What is targeted carrier screening?

In targeted carrier screening, you are tested for disorders based on your ethnicity or family history. If you belong to an ethnic group or race that has a high rate of carriers for a specific genetic disorder, carrier screening for these disorders may be recommended. This also is called ethnic-based carrier screening.

What is genetic screening?

Genetic screening is a tool used to identify individuals who are at a higher risk of developing a particular disorder or who carry a specific gene for a disorder. It is a type of genetic testing, used to identify changes in an individual’s genetic material, such as their chromosomes, genes, or proteins.

Who should be screened for carrier disease?

Traditionally, carrier screening was targeted toward specific ethnic populations known to be at increased risk of particular disorders, commonly known as ethnic-based screening, such as screening those of Ashkenazi Jewish descent for Tay–Sachs disease.

Should carrier screening include conditions primarily associated with adult onset?

Carrier screening panels should not include conditions primarily associated with a disease of adult onset. Carrier screening is a term used to describe genetic testing performed on an asymptomatic individual to determine whether that person has a mutation or abnormal allele within a gene that is associated with a particular disorder.