Competency information
Details
Perform and interpret whole genome analysis from patients with learning disabilities.
Considerations
- 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.
- Clinical and scientific aspects of chromosome disorders.
- The use of digital, light and fluorescent microscopy.
- The use of ISCN.
- Internal and external quality assurance (QA) for chromosome analysis.
- Local laboratory procedures for recording results of chromosome analysis.
- How to critically appraise relevant literature and databases.
- The need for further genetic testing, e.g. fluorescence in situ hybridisation (FISH), chromosomal mircroarrays.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 2 | Outcome Perform appropriate whole genome analysis for patients referred for paediatric genomic testing. |
| # 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. |