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

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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Bibliographic Details
Published in:The Journal of pediatrics 2018-08, Vol.199, p.272-277.e3
Main Authors: Rispoli, Thaiane, Martins de Castro, Simone, Grandi, Tarciana, Prado, Mayara, Filippon, Letícia, Dornelles da Silva, Cláudia Maria, Vargas, José Eduardo, Rossetti, Lucia Maria Rosa
Format: Article
Language:English
Subjects:
Brazil
CFTR gene mutations
cystic fibrosis
Cystic Fibrosis - diagnosis
Cystic Fibrosis - economics
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Female
Genetic Markers
Genetic Testing - economics
Genetic Testing - methods
genotyping
Health Care Costs
Humans
Infant, Newborn
Male
Mutation
National Health Programs - economics
Neonatal Screening - economics
Neonatal Screening - methods
newborn screening
Sensitivity and Specificity
SNaPshot
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Description
Summary: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.
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2018.03.047