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. |