A Low-Cost and Simple Genetic Screening for Cystic Fibrosis Provided by the Brazilian Public Health System.
prospective_cohort · Level II
Where this comes from
- Record sourced from PubMed, PMID 29731357.
- Also identified by DOI 10.1016/j.jpeds.2018.03.047.
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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.
Medical subject headings
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Genetic Testing
- Health Care Costs
- National Health Programs
- Neonatal Screening