Training activity: 5

Details

Perform two analyses for any one of the following tests and interpret the results:

• Amino acids (quantitative)
• Galactosaemia screen (Beutler)
• Acylcarnitine

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

• Local and national training guidelines, including standards and pathways
• Method selection, including pre-analytical issues, assay advantages and limitations, quality parameters, and interferences
• Equipment calibration and maintenance
• Quality control; EQA and IQC
• Clinical utility
• National and international guidelines
• Role of the duty biochemist

Relevant learning outcomes

#	Outcome
# 2	Outcome Employ knowledge of the technical issues associated with paediatric samples.
# 3	Outcome Identify the appropriate specialist testing for the major categories of inborn errors of metabolism.
# 4	Outcome Apply the appropriate testing strategy for paediatric clinical scenarios.
# 6	Outcome Select and perform the appropriate investigative strategy for the common, acute presenting paediatric disorders.
# 7	Outcome Select and perform the appropriate investigative testing strategy for inborn errors, including those relevant to developmental delay and dysmorphism.
# 8	Outcome Apply the investigation of inborn errors of metabolism to adults.