Executive summary The past six decades have seen remarkable improvements in health
outcomes for people with cystic fibrosis, which was once a fatal disease of infants and young …

Interindividual variability in drug metabolism and drug toxicity persists as a major problem
for drug development and treatment. Increased or decreased capacity for drug elimination or …

Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene
(CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis …

Molecular diagnostic tests with application to clinical diagnostics involve studies in infectious
diseases, inherited diseases, oncology, predisposition to disease, or the description of …

Newborn screening for cystic fibrosis enables early detection and management of this
debilitating genetic disease. Implementing comprehensive CFTR analysis using Sanger …

Cystic fibrosis (CF), an autosomal recessive genetic disease, is recognized as one of the
most prevalent diseases in Caucasian populations. Epidemiological data show that the …

We review the carrier screening process in chronological sequence–pretest, test selection,
and posttest results disclosure–and points to be considered, recommending possible …

The past six decades have seen remarkable improvements in health outcomes for people
with cystic fibrosis (CF), which was once a fatal disease of infants and young children …

Precision medicine utilizes tailored diagnostic, prognostic and therapeutic strategies based
on an individual's molecular profile. Although it is gaining considerable traction and high …

All newborn screening laboratories in the United States and many worldwide screen for
cystic fibrosis. Most laboratories use a second-tier genotyping assay to identify a panel of …