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Newborn screening for cystic fibrosis: can one algorithm fit all?

Michele Caggana1

  • 1a Newborn Screening Program, New York State Department of Health, Division of Genetics , Wadsworth Center , Albany , NY , USA.

Expert Review of Molecular Diagnostics
|January 28, 2017
PubMed
Summary

No abstract available in PubMed .

Keywords:
CFTR mutation panelNewborn screeningcystic fibrosisimmunoreactive trypsinogen (IRT)next generation sequence analysispopulation-specific algorithm

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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
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