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Cystic Fibrosis - Clinical Features, Mode Of Inheritance, Treatment, The Cystic Fibrosis Gene And Cftr Protein, Cystic Fibrosis Dna Testing And Screening - Laboratory Diagnosis

Medicine EncyclopediaGenetics in Medicine - Part 1

Cystic fibrosis (CF) is one of the most common genetic diseases and one of the best known to the general public. There are approximately one thousand new cases of CF in the United States every year, and approximately thirty thousand people in the country are currently affected. In many ways, it has come to be viewed, along with sickle-cell disease, as a prototypical recessive genetic disorder, one that can teach us a great deal about the molecular basis of disease, population genetics, and delivery of genetic screening services.

Laboratory Diagnosis

Since the clinical symptoms of CF are so varied, diagnosis is aided by laboratory tests. For many years the only definitive test available was sweat chloride analysis, which detects and quantifies the abnormally high salt concentrations in the sweat of CF patients. Since the causative gene was discovered in 1989, as described below, patients can now also be diagnosed by DNA testing, which detects mutations in the gene.

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