Training activity information

Details

Analyse and interpret the results for an imprinting disorder, to include:

  • PWS/AS

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.

Considerations

  • Principles of the assay
  • Disease mechanism
  • Best practice guidance
  • Local and national guidance
  • Quality control, including IQC, and EQA
  • Nomenclature
  • Sensitivity and limitations
  • Variant classification
  • Local SOPs
  • Health and safety
  • Follow up testing

Relevant learning outcomes

# Outcome
# 2 Outcome

Perform targeted analysis for patients referred with paediatric conditions.

# 5 Outcome

Interpret and report genomic testing relevant to paediatric conditions, including appropriate recommendations for patient management.