A Low-Cost and Simple Genetic Screening for Cystic Fibrosis Provided by the Brazilian Public Health System.

Thaiane Rispoli, Simone Martins de Castro, Tarciana Grandi, Mayara Prado, Letícia Filippon, Cláudia Maria Dornelles da Silva, José Eduardo Vargas, Lucia Maria Rosa Rossetti

Journal of Pediatrics 2018 August

Cystic fibrosis newborn screening was implemented in Brazil by the Public Health System in 2012. Because of cost, only 1 mutation was tested - p.Phe508del. We developed a robust low-cost genetic test for screening 11 CFTR gene mutations with potential use in developing countries.

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