Competency information

Details

Analyse and interpret the results for predictive or confirmation testing.

Considerations

  • Use of automated software to analyse data.
  • Use of HGVS to record sequence variation.
  • Recognition of the appropriate quality standards for the results obtained.

Relevant learning outcomes

# Outcome
# 5 Outcome Interpret and report the range of genetic and genomic testing relevant to these adult onset genetic and genomic conditions.
# 6 Outcome Perform familial follow up studies including for variants of uncertain clinical significance, showing an understanding of the presence of phenocopies.