Article
Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes.
Pediatric pulmonology - 1 Jul 2024
Kay Denise M, Sadeghi Hossein, Kier Catherine, Berdella Maria, DeCelie-Germana Joan K, Soultan Zafer N, Goetz Danielle M, Caggana Michele, Fortner Christopher N, Giusti Robert, Kaslovsky Robert, Stevens Colleen, Voter Karen, Welter John J, Langfelder-Schwind Elinor
Abstract excerpt
BACKGROUND: New York State (NYS) utilizes a three-tiered cystic fibrosis newborn screening (CFNBS) algorithm that includes cystic fibrosis transmembrane conductance regulator (CFTR) gene sequencing. Infants with >1 CFTR variant of potential clinical relevance, including variants of uncertain significance or varying clinical consequence are referred for diagnostic evaluation at NYS cystic fibrosis (CF) Specialty...
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