Training activity information
Details
Analyse and interpret results for targeted genomic dosage analysis associated with paediatric disorders, to include:
- SMA
- DMD/BMD
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
- Variant classification
- Local SOPs
- Health and safety
- Follow up testing
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 2 |
Outcome
Perform targeted analysis for patients referred with paediatric conditions. |
| # 5 |
Outcome
Interpret and report genomic testing relevant to paediatric conditions, including appropriate recommendations for patient management. |