Application of the Luminex LabMAP in Rapid Screening for Mutations in the Cystic Fibrosis Transmembrane Conductance Regulator Gene: A Pilot Study

Abstract

Cystic fibrosis (CF) is an autosomal recessive disorder that occurs in ∼1 in 2500 Caucasians ( 1)( 2)( 3). CF can result from combinations of >750 known mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and in certain populations, as many as 1 person in 25 is a carrier ( 1)( 2)( 3). To date, screening methods have either been narrow, requiring multiple methodologies to be brought to bear for comprehensive coverage, or are cost prohibitive ( 1)( 4). This study describes the Luminex LabMAP^TM system and its potential for simultaneous, rapid, sensitive, and specific screening for mutations in the CFTR gene.