Refinement of newborn screening for cystic fibrosis with next generation sequencing.

Michael J RockMei BakerNicholas J Antos Philip M Farrell

Published in: Pediatric pulmonology (2022)

NGS can be used with IRT as an effective method of identifying infants at risk for CF without an appreciable increase in detection of carriers. Its potential added value includes facilitating equity, enhancing sensitivity and detecting more CF patients with 2-variants during the screening process.

Keyphrases

cystic fibrosis
pseudomonas aeruginosa
copy number
lung function
public health
gene expression
loop mediated isothermal amplification
label free
circulating tumor
quantum dots