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  • Molecular assay reagents intended to identify mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, located at chromosome 7q31.2, which encodes for the cystic fibrosis transmembrane conductance regulator protein. This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. Transport of chloride ions helps control the movement of water in tissues and maintains the fluidity of mucus and other secretions. Mutations at this locus have been identified in patients with cystic fibrosis and congenital bilateral aplasia of the vas deferens.
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