Detection of disease-causing CFTR variants in state newborn screening programs.

Meghan E McGarry Clement L RenRunyu WuPhilip M Farrell Susanna A McColley

Published in: Pediatric pulmonology (2022)

CFTR variant panels have lower detection rates in minoritized racial and ethnic groups leading to false-negative NBS, delayed diagnosis, and likely health disparities.

Keyphrases

cystic fibrosis
public health
loop mediated isothermal amplification
healthcare
label free
real time pcr
mental health
copy number
health information
gene expression
social media