Competency information
Details
Perform simple Bayesian analysis to calculate carrier probability in BMD/DMD and SMA.
Considerations
- The importance of accurate pedigree construction.
- Calculation of an a priori and a posterior risk to an individual in a pedigree of being affected with a disorder.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 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. |