Competency information

Details

Perform the analysis and interpretation of Prenatal Diagnosis for single gene mutations.

Considerations

  • The sample and clinical requirements for the prenatal diagnosis of a single gene disorder.
  • The range of technical pathways by example, including limitations and sensitivities, the essential requirement for good laboratory practice and the risks. Identify and describe potential for error, how this is mitigated and its potential effects.
  • Best practice guidelines.
  • Difference between the two. Apply good practice at all times.

Relevant learning outcomes

# Outcome
# 1 Outcome Apply an appropriate testing strategy (the right sample, the right test, for the right reasons) meeting all relevant KPIs (key performance indicators, however defined).
# 2 Outcome Analyse and interpret results of specific defined tests.
# 3 Outcome Identify and respond appropriately to results.
# 5 Outcome Act in accordance with the high level of laboratory risk associated with prenatal testing and within limits of their responsibilities.