Carrier testing is primarily useful in the reproductive period to determine the risk of an individual having a child affected by the condition for which testing is being considered. Knowing that a child is a carrier of an X-linked or autosomal recessive condition usually does not alter medical care in the pediatric years since most carriers are unaffected. Thus, in most situations, there is not a medical indication for carrier testing in a child. Undertaking carrier testing of a child violates the right of the child to make his or her own decision about testing and could potentially impair future insurability. An exception could be made for a mature adolescent who may be able to understand the reproductive implications of carrier testing after appropriate genetic counselling.

Conditions: X-linked or autosomal recessive condition

Diagnostic Tests: Carrier testing

Treatments: Genetic counselling

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