Article
Multisite Verification of a Targeted CFTR Polymerase Chain Reaction/Capillary Electrophoresis Assay That Evaluates Pathogenic Variants Across Diverse Ethnic and Ancestral Groups.
Archives of pathology & laboratory medicine - 1 Oct 2024
Hall Bradley, Milligan John N, Kelnar Kevin, Hallmark Elliot, Ashton Jacob D, Parker Connor A, Filipovic-Sadic Stela, Sharp Abigail, Eagle Samantha, Rodgers Nissa, Leung Marco, Mathew Mariam T, Grissom Luke, Post Rebecca, Teran Nataša, Latham Gary J
Abstract excerpt
CONTEXT.—: Existing targeted cystic fibrosis screening assays miss important pathogenic CFTR variants in the ethnically diverse US population. OBJECTIVE.—: To evaluate the analytic performance of a multiplex polymerase chain reaction (PCR)/capillary electrophoresis (CE) CFTR assay panel that simultaneously interrogates primary pathogenic variants of different ethnic/ancestral groups. DESIGN.—: Performance...
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