Competency information
Details
Perform the analysis and interpretation of genomic dosage and targeted analysis for the detection of genome anomalies associated with learning disability.
Considerations
- The technical pathway including its limitations and sensitivities, the essential requirement for good laboratory practice and the risks.
- Validation and verification of findings.
- How to identify and describe potential for error, how is this mitigated and its potential effects.
- Best practice guidelines compared with laboratory practice and any differences between the two.
- Microarray data analysis and the use of relevant software.
- Interpretation and classification of Copy Number Variation (CNVs) according to best practice guidance.
- The added value of referring for further testing.
- The counselling issues (e.g. incidental findings).
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 2 | Outcome Perform appropriate whole genome analysis for patients referred for paediatric genomic testing. |
| # 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. |