Competency information
Details
Interpret FMR1 analysis in relation to premature ovarian failure (POF).
Considerations
- The technical basis of detecting FRAXA premutation alleles.
- The implications for other family members of identifying a FRAXA premutation in a patient with POF.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 5 | Outcome Interpret and report the range of genetic and genomic testing relevant to these adult onset genetic and genomic conditions. |
| # 6 | Outcome Perform familial follow up studies including for variants of uncertain clinical significance, showing an understanding of the presence of phenocopies. |