Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG)

Genet Med. 2023 Aug;25(8):100867. doi: 10.1016/j.gim.2023.100867. Epub 2023 Jun 13.
No abstract available

Keywords: CFTR; Cystic fibrosis; Pancreatitis; Screening; Variant.

Publication types

  • Practice Guideline

MeSH terms

  • Cystic Fibrosis Transmembrane Conductance Regulator* / genetics
  • Genetic Testing
  • Genetics, Medical*
  • Genomics
  • Humans
  • Mutation
  • United States

Substances

  • Cystic Fibrosis Transmembrane Conductance Regulator
  • CFTR protein, human