Competency information

Details

Perform a PCR-based test to detect common CFTR mutations.

Considerations

  • Principles of the technique, including limitations and sensitivity.
  • Internal and external quality control.
  • The quality parameters for the test.
  • Use of suitable analysis software.
  • How to recognise samples that require repeat testing or that have failed testing.
  • Accurate recording of results of analysis following local laboratory protocols.

Relevant learning outcomes

# Outcome
# 3 Outcome Perform targeted testing for patients referred with paediatric genetic conditions.