Carrier Screening: Commonly Tested for Conditions

Genetic carrier screening for common genetic disorders should be offered to everyone, regardless of age or ethnic background. Examples of common genetic disorders that screening is generally offered for include cystic fibrosis and spinal muscular atrophy.

Some medical providers may also offer screening for another condition called fragile X syndrome. However, the American College of Medical Genetics and other professional organizations do not recommend offering screening for fragile X syndrome to all patients, unless there is a family history or another specific reason for doing so.

Screening for inherited forms of anemia, called hemoglobinopathies, may also be offered depending on your ethnic background and medical/family history.

Individuals who have Ashkenazi Jewish ancestry may also be at an increased chance to be a carrier for a number of genetic conditions.

Genetic carrier screening is always your choice, and a genetic counselor can help you examine the risks, benefits, and limitations of whether or not to move forward with genetic carrier screening.

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Last updated on Feb 13th, 2019