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Clinical Trial
. 2018 Aug:199:272-277.e3.
doi: 10.1016/j.jpeds.2018.03.047. Epub 2018 May 3.

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

Thaiane Rispoli  1 , Simone Martins de Castro  2 , Tarciana Grandi  3 , Mayara Prado  1 , Letícia Filippon  4 , Cláudia Maria Dornelles da Silva  3 , José Eduardo Vargas  5 , Lucia Maria Rosa Rossetti  6
Affiliations
Clinical Trial

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

Thaiane Rispoli et al. J Pediatr. 2018 Aug.

Abstract

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.

Keywords: CFTR gene mutations; SNaPshot; cystic fibrosis; genotyping; newborn screening.

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