Carrier Testing

Carrier testing is genetic testing to determine whether an individual carries one copy of an altered gene for a particular recessive condition. Genes are the basic units of heredity passed from parent to child. Genes occur in pairs and we inherit one member of each pair from our mother and the other from our father. A change in a gene, known as a mutation, can cause that gene not to work properly. This can lead to disease.

Certain diseases are caused when both genes of a pair have mutations. This is called a recessive disease. In order to have a child with a recessive disease, each parent has a gene that works properly and a gene that does not. The parents are known as carriers and do not have any health problems related to that gene. Genetic testing can identify carriers by a simple blood test to determine if a couple is at risk to have a child affected with a specific disease.

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