Competency information

Details

Observe and assist with the range of laboratory methods and their application to generate genetic test results for patients.

Considerations

  • Principles and applications of relevant methods and techniques.
  • The principles of PCR and sequence methods, including the significance of contamination, sensitivity and associated hazards and risks.
  • The principles of chromosomal microarray and other dosage techniques, including the significance of contamination, sensitivity and associated hazards and risks.
  • Relevant internal quality control procedures and characteristics of substandard reactions.
  • Factors affecting the integrity of samples and reagents and relevant sensitivities to conditions of cold, heat and light.
  • Principles of electrophoresis of nucleic acids.
  • Principles of radioactive and fluorescent image detection.
  • Principles of mutation detection and DNA sequencing.
  • Limitations and sensitivity of each test method.
  • The nature and effect of possible artefacts.

Relevant learning outcomes

# Outcome
# 3 Outcome Apply the correct genetic nomenclature to genetic alterations, including International System for Chromosome Nomenclature (ISCN) and Human Genome Variation Society (HGVS) nomenclature.