Competency information
Details
Interpret results from methylation studies for PWS/AS syndrome.
Considerations
- The technical procedure including its limitations and sensitivities, the essential requirement for good laboratory practice and the risks.
- Identify and describe potential for error, how is this mitigated and its potential effects.
- Best practice guidelines compared with laboratory practice and any differences between the two.
- Internal quality parameters and use of interpretive software where applicable.
- MLPA methodology for the assessment of methylation status.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 3 | Outcome Perform targeted testing for patients referred with paediatric genetic conditions. |
| # 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. |