single-gene testing / single-gene sequencing

Single-gene testing is done when your doctor believes you or your child have symptoms of a specific condition or syndrome. It is also used when there is a known genetic mutation in a family.

All exons of one gene are scanned to see if there is a mutation, meaning parts of the gene that are missing (deletion) or have been repeated (duplication). Often including parts of the non-coding areas (e.g., the sequence before a gene [promoter] or between exons [introns]).

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