| CF | cystic fibrosis |
| NBS | newborn screening |
| CFTR | cystic fibrosis transmembrane conductance regulator |
| CRMS | cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome |
| CFSPID | cystic fibrosis screen positive, inconclusive diagnosis |
| CFTR2 | The Clinical and Functional TRanslation of CFTR |
| IRT | immunoreactive trypsinogen |
| VVCCs | variant of varying clinical consequences |
| PRISMA-DTA | Preferred Reporting Items for Systematic Review and Meta-Analysis of Diagnostic Test Accuracy |
| VUS | variant of unknown significance |
| CFTR-RD | CFTR-related disorder |
| PanelCF-causing | panel using only CF-causing variants |
| PanelCF-causing+VVCCs | panel using CF-causing variants and VVCCs |
| IQR | interquartile range |
| PKU | phenylketonuria |
| MCAD | medium-chain acyl-CoA dehydrogenase |