Multisite Verification of a Targeted CFTR Polymerase Chain Reaction/Capillary Electrophoresis Assay That Evaluates Pathogenic Variants Across Diverse Ethnic and Ancestral Groups

• DOI: 10.5858/arpa.2023-0230-oa
• Publication Date: 2024-01-08T17:04:38Z
• Authors: Bradley Hall; John N. Milligan; Kevin Kelnar; Elliot Hallmark; Jacob D. Ashton; Connor A. Parker; Stela Filipovic-S...; Abigail Sharp; Samantha Eagle; Nissa Rodgers; Marco Leung; Mariam T. Mathew; Luke Grissom; Rebecca Post; Nataša Teran; Gary J. Latham
• Keywords: Cystic Fibrosis; Genotype; Cystic Fibrosis Transmembrane Conductance Regulator; Electrophoresis, Capillary; Genetic Variation; Sensitivity and Specificity; United States; 03 medical and health sciences; 0302 clinical medicine; Mutation; Ethnicity; Humans; Genetic Testing; Multiplex Polymerase Chain Reaction

Existing targeted cystic fibrosis screening assays miss important pathogenic CFTR variants in the ethnically diverse US population.