Competency information
Details
Select an appropriate reflex test and the interpretation within the context of the primary analysis.
Considerations
- The added value of targeted analysis (e.g. FISH, MLPA etc.)
- The technical pathway including its limitations and sensitivities, the essential requirement for good laboratory practice and the risks.
- How to identify and describe the potential for error, how this is mitigated and its potential effects.
- Best practice guidelines compared with laboratory practice and any differences between the two.
Relevant learning outcomes
# | Outcome |
---|---|
# 1 | Outcome Apply an appropriate testing strategy relevant to patients referred for paediatric disorders. |
# 3 | Outcome Perform targeted testing for patients referred with paediatric genetic conditions. |
# 4 | Outcome Investigate the clinical significance of variants using a range of bioinformatics tools, following current best practice guidelines. |
# 5 | Outcome Interpret and report a range of genetic and genomic testing relevant to paediatric conditions, including the results of diagnostic testing which should encompass appropriate recommendations for patient management. |