There is a history of someone else in the family with a genetic disorder. A child whose brother died from Canavan disease. Testing an Ashkenazi man for Gaucher disease, even when there is a non-specific problem such as fatigue or anemia. Testing individuals to see if they carry, or are heterozygous for, genes that are associated with a genetic disorder may be warranted for the same kinds of reasons that sometimes warrant testing an individual to see if they have a genetic disease.
Testing usually involves obtaining a blood sample for analysis.
The serum, or liquid part of the blood, and the cells in the blood contain a large number of enzymes and other proteins which can be analyzed to see if they have been altered by genetic mutation. Alternatively, DNA, which contains all the genes, can be isolated from the cells in the blood and analyzed to directly determine if there is a mutation in a specific gene. If you or someone you know has symptoms or physical signs that you think might be related to a genetic disorder, contact your physician. If you have a relative who has a genetic disorder, you can get more information about carrier testing from your physician, a clinical geneticist, or a genetic counselor. If you belong to a racial or ethnic group known to be at increased risk for certain genetic disorders, you can get more information about testing from your physician, a clinical geneticist, or a genetic counselor.