Negative Sweat Chloride Testing in the Setting of a Positive Newborn Screen and CFTR Compound Heterozygosity

Clin Chem. 2024 Oct 3;70(10):1202-1205. doi: 10.1093/clinchem/hvae102.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Chlorides* / analysis
  • Cystic Fibrosis Transmembrane Conductance Regulator* / genetics
  • Cystic Fibrosis* / diagnosis
  • Cystic Fibrosis* / genetics
  • Female
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Male
  • Neonatal Screening* / methods
  • Sweat* / chemistry

Substances

  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Chlorides
  • CFTR protein, human