Genetic testing for cystic fibrosis (CF) has evolved, with "full CFTR sequencing" being an unofficial term for testing that includes coding and flanking regions, which is more comprehensive than limited variant panels. Now, it is recommended for all infants without two identified CFTR variants after newborn screening (NBS). This test is widely available in most labs and can identify a second variant, improving risk estimates for parents. Next-generation sequencing (NGS) is commonly used, but it may miss large structural variants like deletions or duplications. Some labs perform separate analyses for these, while others do not. Additional testing for intronic regions is recommended for infants with one variant and a high suspicion of CF, especially if sweat chloride levels are near the diagnostic threshold or increasing. It is also important to determine if deletion and duplication analysis was performed during NBS or additional testing. Variants in noncoding regions may be considered of uncertain significance, and genetic counseling can help parents understand the implications. Communication of CRMS/CFSPID diagnosis is challenging, requiring individualized information and counseling. Educational tools, teach-back techniques, and follow-up sessions can improve understanding. Genetic counseling is crucial for parents, as it enhances long-term retention of genetic knowledge. A multidisciplinary team developed consensus guidelines, reviewing literature and excluding non-relevant articles. The guidelines were revised based on public feedback and approved by the committee before publication.Genetic testing for cystic fibrosis (CF) has evolved, with "full CFTR sequencing" being an unofficial term for testing that includes coding and flanking regions, which is more comprehensive than limited variant panels. Now, it is recommended for all infants without two identified CFTR variants after newborn screening (NBS). This test is widely available in most labs and can identify a second variant, improving risk estimates for parents. Next-generation sequencing (NGS) is commonly used, but it may miss large structural variants like deletions or duplications. Some labs perform separate analyses for these, while others do not. Additional testing for intronic regions is recommended for infants with one variant and a high suspicion of CF, especially if sweat chloride levels are near the diagnostic threshold or increasing. It is also important to determine if deletion and duplication analysis was performed during NBS or additional testing. Variants in noncoding regions may be considered of uncertain significance, and genetic counseling can help parents understand the implications. Communication of CRMS/CFSPID diagnosis is challenging, requiring individualized information and counseling. Educational tools, teach-back techniques, and follow-up sessions can improve understanding. Genetic counseling is crucial for parents, as it enhances long-term retention of genetic knowledge. A multidisciplinary team developed consensus guidelines, reviewing literature and excluding non-relevant articles. The guidelines were revised based on public feedback and approved by the committee before publication.