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Carrier testing is a type of genetic testing that is used to determine if a person is a carrier for specific autosomal recessive diseases. [1] This kind of testing is used most often by couples who are considering becoming pregnant to determine the risks of their child inheriting one of these genetic disorders. [2]
Genetic testing is often done as part of a genetic consultation and as of mid-2008 there were more than 1,200 clinically applicable genetic tests available. [23] Once a person decides to proceed with genetic testing, a medical geneticist, genetic counselor, primary care doctor, or specialist can order the test after obtaining informed consent .
Carrier testing is used to identify people who carry one copy of a gene change (also referred to as a variant or mutation) that, when present in two copies, causes a genetic disorder. Carrier testing is typically offered to individuals who are considering pregnancy or are already pregnant, have a family history of a specific genetic disorder ...
Carrier testing can help guide the decisions of couples who are at high risk, e.g.: Both of Jewish descent – Several disorders including Tay–Sachs disease. The organization Dor Yeshorim offers testing in many countries. [citation needed] Both Cypriot – Thalassemia. Testing is fully subsidized and mandated in both jurisdictions on Cyprus.
Cystic fibrosis carrier screening, chromosome analyses, and hemoglobin evaluations are performed on the majority of sperm donor applicants in the United States. [2] Donors of Jewish, French Canadian, or Cajun descent may also get genetic testing for the carrier trait of Tay–Sachs disease , but there is significant variation in screening for ...
Carrier Screening is a general DNA test that uses a blood or cheek swab sample to determine if the parents carry certain genetic conditions. This test can be done anytime, whether the individual(s) are considering starting a family or have already become pregnant.
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