sequence analysis

Some Clinical Implications

  • An entire gene may be sequenced or, more commonly, only select regions of the gene most likely to contain mutations (e.g., the exons and intron-exon boundaries) are sequenced.
  • Sequencing a segment of DNA identifies most variations from the wild-type. (In contrast, mutation analysis identifies only specific targeted mutations within a given segment of DNA.)
  • Types of sequence alterations that may be detected1
    • Pathogenic sequence alteration reported in the literature
    • Sequence alteration predicted to be pathogenic but not reported in the literature
    • Unknown sequence alteration of unpredictable clinical significance
    • Sequence alteration predicted to be benign but not reported in the literature
    • Benign sequence alteration reported in the literature
  • Possibilities if a sequence alteration is not detected

1Adapted from the ACMG Recommendations for Standards for Interpretation of Sequence Variations (2000).

Revised: 1-27-03
Posted: 10-1-02

Related Terms: direct DNA analysis; DNA-based testing; molecular genetic testing; mutation scanning; PCR; Targeted mutation analysis

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