P758: Gaps in CFTR carrier screening: Population diversity and variant representation
Abstract
Conclusion:CNVs represented 1% of CFTR pathogenic variants and included recurrent and clinically significant gains and losses distributed across multiple loci of CFTR gene.The most common were exon 19-20, 19-21, and 2-3 deletions, along with exon 4-17 duplications.These findings suggest that adding deletion/duplication analysis to sequencing may reduce residual risk, strengthen CF carrier screening, and support a more comprehensive assessment.
Fields of Study & Subjects
Cystic Fibrosis Research Advances
Genomics and Rare Diseases
Prenatal Screening and Diagnostics
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104250–104250
- Publication date
- 1 January 2026
- Language
- EN