Training activity information
Details
Analyse and interpret the results of chromosomal analysis for patients referred for infertility or recurrent miscarriage, and select appropriate reflex test
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, use of ISCN
- Interpretation of results using relevant online databases, evidence base and literature
- Segregation analysis for patients with balanced translocations and assess the risk of affected offspring
- Reflex testing options
- Disease mechanism
- Sensitivity and limitations
- Local SOPs
- Health and safety
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 3 |
Outcome
Perform chromosomal analysis for patients referred for 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. |