Training activity information
Details
Select the correct genetic test(s) for a range of adult conditions, to include:
- NGS applied to an adult disorder e.g. familial hypercholesterolaemia, and CMT
- Triplet repeat neurological disorders e.g. Huntington’s disease, spinocerebellar ataxias, and Friedreich’s ataxia
- Chromosome analysis for infertility or recurrent miscarriage
- Molecular analysis for infertility e.g. cystic fibrosis, FMR1 and POF
Type
Entrustable training activity (ETA)
Evidence requirements
Evidence the activity has been undertaken by the trainee repeatedly, consistently, and effectively over time, in a range of situations. This may include occasions where the trainee has not successfully achieved the outcome of the activity themselves. For example, because it was not appropriate to undertake the task in the circumstances or the trainees recognised their own limitations and sought help or advice to ensure the activity reached an appropriate conclusion.
Reflection at multiple timepoints on the trainee learning journey for this activity.
Considerations
- Sample acceptance criteria
- Sample storage
- Reason for referral
- Testing pathways
- Local SOPs
- Health and safety
- Consent process
- Test specific ethical issues
- Onward referrals
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 1 |
Outcome
Apply appropriate testing strategies to patients referred for adult-onset disorders. |