Back Module: SLS422

Competency: 6

This is a compentency for the module "Adult Genetic and Genomic Disorders".

Competency information

Details

Analyse, interpret and report on the most common CFTR mutations.

Considerations

  • The relevance of polyT tract variants.
  • The implications for other family members of identifying a CFTR mutation in an infertile male.
  • The implications of the genetic tests (including ethical, legal and social implications) for the effective management of this group of patients.
  • The molecular pathogenesis of CFTR mutations in relation to 
  • congenital bilateral absence of the vas deferens (CBAVD).
  • The counselling issues associated with this referral group.
  • Implication of the CF result in other patient pathways, e.g. diagnostic testing.
  • The integration of targeted mutation analysis associated with screening protocols, with genetic testing for the same disease in other care pathways.

Relevant learning outcomes

# Outcome
# 4 Outcome Investigate the clinical significance of variants using a range of bioinformatics tools following current best practice guidelines.
# 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.
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