Competency information
Details
Interpret results from chromosomal analysis for patients referred for infertility.
Considerations
- Interpretation of results from chromosome analysis using relevant online databases and literature.
- Perform segregation analysis for patients with balanced translocations and assess the risk of affected offspring.
- How to critically appraise relevant literature and databases.
- The need for further genetic testing, e.g. molecular analysis to detect Y chromosome deletions.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 4 | Outcome Investigate the clinical significance of variants using a range of bioinformatics tools following current best practice guidelines. |
| # 5 | Outcome Interpret and report the range of genetic and genomic testing relevant to these adult onset genetic and genomic conditions. |