Training activity information

Details

Review referrals; analyse, interpret and report the results of testing for Cystic Fibrosis to include:

  • Diagnostic (classical and non-classical) testing
  • Presymptomatic testing
  • Carrier/familial testing

Type

Developmental training activity (DTA)

Evidence requirements

Evidence the activity has been undertaken by the trainee​.

Reflection on the activity at one or more time points after the event including learning from the activity and/or areas of the trainees practice for development.

An action plan to implement learning and/or to address skills or knowledge gaps identified.

Relevant learning outcomes

# Outcome
# 1 Outcome

Triage referrals for rare disease genomic investigations.

# 2 Outcome

Perform targeted and chromosomal analysis for patients referred for investigation of rare disease.

# 3 Outcome

Interpret genomic variants to investigate the clinical significance using appropriate nomenclature.

# Outcome