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.