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.