Training activity information
Details
Analyse and interpret the results for a range of triplet repeat expansion disorders for adult patients
Type
Developmental training activity (DTA)
Evidence requirements
Evidence the activity has been undertaken by the trainee​.
Reflection on the activity at one or more time points after the event including learning from the activity and/or areas of the trainees practice for development.
An action plan to implement learning and/or to address skills or knowledge gaps identified.
Considerations
- Principles of the assay
- Best practice guidance
- Local and national guidance
- Quality control, including IQC, and EQA
- Nomenclature
- Sensitivity and limitations of the assay used
- Range of repeat sizes
- Use of NGS to pick up STR expansions
- Implications of results for other family members
- Local SOPs
- Health and safety
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 2 |
Outcome
Perform molecular analysis for patients referred with adult-onset disorders. |
| # 4 |
Outcome
Interpret genomic variants, including copy number and structural changes and investigate the clinical significance of variants using bioinformatic tools using best practice guidelines. |