Competency information
Details
Perform dosage analysis on a patient sample referred for DMD or SMA and analyse the result of molecular testing using appropriate software.
Considerations
- Principles of the techniques, including limitations and sensitivity.
- Internal and external quality control.
- The quality parameters for the test.
- Use of suitable analysis software.
- How to recognise samples that require repeat testing or that have failed testing.
- Accurate recording of results of analysis following local laboratory protocols.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 3 | Outcome Perform targeted testing for patients referred with paediatric genetic conditions. |
| # 4 | Outcome Investigate the clinical significance of variants using a range of bioinformatics tools, following current best practice guidelines. |
| # 5 | Outcome Interpret and report a range of genetic and genomic testing relevant to paediatric conditions, including the results of diagnostic testing which should encompass appropriate recommendations for patient management. |