Training activity information
Details
Review referrals; analyse, interpret and report the results of diagnostic, presymptomatic and carrier testing for FMR1 related conditions to include:
- Fragile X syndrome
- Premature Ovarian Failure (POF)
- Fragile X- associated tremor/ataxia syndrome
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.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 1 |
Outcome
Review referrals for patients referred for rare disease genomic testing. |
| # 2 |
Outcome
Analyse, interpret and report results for diagnostic, presymptomatic and familial/carrier rare disease genomic testing. |
| # 3 |
Outcome
Perform targeted analysis, whole genome analysis, and chromosomal analysis for patients referred for rare disease genomic testing. |
| # 4 |
Outcome
Interpret genomic variants to investigate their clinical significance for patients referred for rare disease genomic testing. |
| # 7 |
Outcome
Employ specialist knowledge of rare disease genomic testing to deliver a safe and high-quality service. |
| # 8 |
Outcome
Demonstrate appropriate communication skills with healthcare professional colleagues to inform the clinical management of patients referred for rare disease genomic testing. |