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Cystic Fibrosis

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Cystic fibrosis transmembrane conductance regulator (CFTR) functions as a chloride channel and controls the regulation of other transport pathways.  Mutations in the CFTR gene have been found to cause cystic fibrosis and congenital bilateral aplasia of the vas deferens (CBAVD).  CF is one of the most common genetic diseases in Caucasians, with an incidence of about 1 in 3,300.  The disease also has a fairly high incidence among Hispanics, 1 in 9,500.  CF is a rare disorder in native Africans and native Asians, estimated to occur in less than 1 in 50,000, but higher incidences are observed in American populations of these ethnic groups.  The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) now recommend DNA screening for all couples seeking preconception or prenatal care – not just those with a personal or family history of CF, as previously recommended.  While hundreds of mutations in the CF gene have been identified, 25 common mutations account for more than 90% of all CF cases.  If CF is suspected in a patient who has previously tested negative, the lab also offers full gene sequencing by NGS technology.