Competency information
Details
Perform the appropriate genetic investigations for patients referred with CLL
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 acquired mutations
- Choice of appropriate tests according to suspected diagnosis to include single nucleotide variation (SNV) and copy number variation (CNV)
- Limitations of each procedure including limit of detection, sensitivity and specificity
- Factors affecting quality of molecular results Interpretation of results
- Common artefacts
- Correct nomenclature for reporting of acquired mutations (ISCN or HGVS)
- 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 |