Competency information
Details
Analyse samples for genomic rearrangements and or copy number variation (CNV) using standard laboratory methodology for patients referred at diagnosis
Considerations
- Requirements of the sample for successful nucleic acid extraction
- Health and safety requirements for processing of fresh peripheral blood, bone marrow or paraffin embedded samples
- Principles of molecular genetic approaches for identification of oncogene fusions
- Choice of appropriate tests according to the suspected diagnosis eg G-band analysis, FISH, microarray, RNA-Seq
- Limitations of each procedure including limit of detection, sensitivity and specificity
- Factors affecting the quality of molecular results Interpretation of results
- Integration of results with molecular cytogenetic data
- Importance of knowledge of the transcript type or breakpoint for fusion genes
- Consideration of rare and unusual transcript type or breakpoints
- Internal quality control for assays Importance of external quality assurance
- Role of validation and verification of procedures and equipment
- Understanding of ISO 15189 or equivalent
- National guidelines for pathways and procedures
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 3 | Outcome Apply the appropriate testing strategy for a range of complex myeloid malignancies including AML, MDS, considering the approach for subclassification and prognosis of disease |
| # 7 | Outcome Interpret and report on the relevant laboratory procedures for the diagnosis of a range of myeloid and lymphoid malignancies |