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Carrier testing

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Carrier testing

Carrier detection, heterozygote testing. Testing used to identify individuals who are usually asymptomatic, but who have a gene mutation for an autosomal recessive or X-linked recessive disorder, or a balanced structural rearrangement of their chromosomes.

The term "carrier testing" is used for testing people who are increased risk of being carriers of a specific inherited disorder, eg because a relative is known to be a carrier or is affected. When testing is performed in a population, this is called "carrier screening."

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