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 already known to be at an increased risk of being carriers of a specific inherited disorder, usually because a relative is known to be a carrier or has the condition.
Carrier testing for family members is most likely to be offered and co-ordinated by staff in a regional clinical genetics centre who are looking after the family.
A different term is used when testing members of a population (for instance pregnant women with no family history of a condition) - this is called "carrier screening."
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