Competency information
Details
Analyse and interpret the results of laboratory tests to detect triplet repeat expansions.
Considerations
- The concept of phenocopies that might cause similar symptoms, e.g. HD and the importance of these in interpreting the results of predictive testing and in suggesting further diagnostic tests.
- The difference between diagnostic and predictive/carrier testing and the ability to interpret and report results accordingly.
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. |