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Common Test-Ordering Errors
Part 3: Misordered Tests

"Known" Mutations
Molecular vs. Nonmolecular Test for Given Disease
Chromosome Analysis


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Cystic Fibrosis

Slide 6

June 2010

Let’s use genetic testing for cystic fibrosis as an example. Cystic fibrosis is an autosomal recessive disorder characterized by a varied degree of chronic obstructive lung disease and pancreatic enzyme insufficiency. The clinical diagnosis of cystic fibrosis is generally made based on these features, combined with a positive sweat chloride test.

Cystic fibrosis is caused by abnormalities in the CFTR gene (CFTR stands for cystic fibrosis transmembrane conductance regulator). CFTR gene mutations result in altered transport of ions across cell membranes in certain tissues, including sweat glands, pancreas, and lungs. To date, over 1,500 mutations have been described within the CFTR gene. Despite this very large number of described mutations, the most common mutation, termed deltaF508, accounts for approximately two-thirds of all mutations worldwide.

Cystic Fibrosis


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