Competency information
Details
Select the correct genetic tests for patients referred with a suspected neuromuscular disorder.
Considerations
- The range of tests suitable for patients presenting with particular neuromuscular symptoms.
- The genetic alterations and genes responsible for a range of neuromuscular disorders, e.g. B/DMD, DM and SMA.
- The range of genetic testing relevant to diagnostic and carrier/predictive testing for neuromuscular disorders.
- The distinction between in-frame and out of frame dystrophin mutations and the ability to interpret B/DMD testing results appropriately.
- The use of linkage analysis (B/DMD and SMA) and the ability to evaluate the risks of recombination.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 1 | Outcome Apply an appropriate testing strategy relevant to patients referred for paediatric disorders. |
| # 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. |