Article
Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?
Thorax - 1 Mar 2014
Ooi Chee Y, Dupuis Annie, Ellis Lynda, Jarvi Keith, Martin Sheelagh, Ray Peter N, Steele Leslie, Kortan Paul, Gonska Tanja, Dorfman Ruslan, Solomon Melinda, Zielenski Julian, Corey Mary, Tullis Elizabeth, Durie Peter
Abstract excerpt
BACKGROUND: The phenotypic spectrum of cystic fibrosis (CF) has expanded to include patients affected by single-organ diseases. Extensive genotyping and nasal potential difference (NPD) testing have been proposed to assist in the diagnosis of CF when sweat testing is inconclusive. However, the diagnostic yield of extensive genotyping and NPD and the concordance between NPD and the sweat test have not been...
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