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. |